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
CSRNP1	64651	broad.mit.edu	37	3	39185116	39185117	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:39185116_39185117delAG	ENST00000273153.5	-	5	1376_1377	c.1199_1200delCT	c.(1198-1200)tctfs	p.S400fs	CSRNP1_ENST00000514182.1_Frame_Shift_Del_p.S400fs	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1			24					CACCGAAGTCAGAGTCACTGAA	0.604000																								0							SO:0001589	frameshift_variant			ENST00000273153.5	0	1	hg19	CCDS2682.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	1	0	0	16	234	0	59	1	7.721509e-01	5	38	0	59	2	0	0	0	0	0	0		0	0.107729	23	233	3	60	25								-19.418880	1	0	0	0		1	0	0	0	1.778713	1	0.320000	1.790000	0.208566	0.340000	0.200000	0.520000	0.340000	0.356785	0.340000	0	2.600000e-01	4.400000e-01
MKX	283078	broad.mit.edu	37	10	27964309	27964309	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:27964309G>A	ENST00000375790.5	-	7	1340	c.908C>T	c.(907-909)aCg>aTg	p.T303M	MKX_ENST00000419761.1_Missense_Mutation_p.T303M			Q8IYA7	MKX_HUMAN	mohawk homeobox			16					CTTCCAATACGTGTCATCCTT	0.458000																								0							SO:0001583	missense			ENST00000375790.5	1	1	hg19	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675117	0.88445	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.19394	2.15;2.15	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.11916	-1.0568	10	0.72032	D	0.01	-26.4697	20.6013	0.99457	0.0:0.0:1.0:0.0	.	303	Q8IYA7	MKX_HUMAN	M	303	ENSP00000364946:T303M;ENSP00000400896:T303M	ENSP00000364946:T303M	T	-	2	0	MKX	28004315	1.000000	0.71417	0.989000	0.46669	0.896000	0.52359	7.322000	0.79097	2.878000	0.98634	0.650000	0.86243	ACG		TCGA-HZ-A4BK-01A-11D-A26I-08	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	1	0	0	59	626	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1.000000	58	625	0	92	2								-15.191460	1	1	0	0		1	0	0	0	2.000691	0	0.320000	1.790000	0.295191	0.510000	0.390000	0.650000	0.520000	0.524804	0.510000	0	4.500000e-01	5.900000e-01
CCDC7	79741	broad.mit.edu	37	10	32740612	32740612	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:32740612G>A	ENST00000362006.5	+	2	585	c.42G>A	c.(40-42)tcG>tcA	p.S14S	CCDC7_ENST00000277657.6_Silent_p.S14S|CCDC7_ENST00000537047.1_Silent_p.S14S|CCDC7_ENST00000545067.1_Silent_p.S14S|CCDC7_ENST00000539197.1_Silent_p.S14S|CCDC7_ENST00000535327.1_Silent_p.S14S	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7			14		Breast(68;0.000207)|Prostate(175;0.0107)			GTAACAAATCGGCAAATGTTC	0.323000																								0							SO:0001819	synonymous_variant			ENST00000362006.5	1	1	hg19	CCDS7173.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	1	0	1	52	282	0	46	0	0	1	0	0	46	2		0	0	0	0	0	2	1	1.000000	51	279	0	46	2								-2.754154	1	1	0	0		1	0	0	0	2.000691	0	0.320000	1.790000	0.295191	0.930000	0.710000	1.000000	1.000000	0.919019	0.930000	1	8.200000e-01	1
P4HA1	5033	broad.mit.edu	37	10	74813157	74813157	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:74813157C>T	ENST00000307116.2	-	6	771	c.655G>A	c.(655-657)Gga>Aga	p.G219R	P4HA1_ENST00000440381.1_Missense_Mutation_p.G219R|P4HA1_ENST00000373008.2_Missense_Mutation_p.G219R|P4HA1_ENST00000412021.2_Missense_Mutation_p.G219R|P4HA1_ENST00000394890.2_Missense_Mutation_p.G219R|P4HA1_ENST00000263556.3_Missense_Mutation_p.G219R			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I			15	Prostate(51;0.0198)			Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCAGGTCTCCCTGCTGATAT	0.398000													Colon(147;367 2405 2662 52127)											0							SO:0001583	missense			ENST00000307116.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.226826	0.95173	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.52057	0.7;0.7;0.7;0.7;0.7;0.68	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.91872	3.25	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.991	D;D;D	0.76575	0.988;0.953;0.953	T	0.81475	-0.0916	10	0.87932	D	0	-4.2197	20.1224	0.97967	0.0:1.0:0.0:0.0	.	219;219;219	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	R	219	ENSP00000307318:G219R;ENSP00000362099:G219R;ENSP00000411688:G219R;ENSP00000378353:G219R;ENSP00000263556:G219R;ENSP00000414464:G219R	ENSP00000263556:G219R	G	-	1	0	P4HA1	74483163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.468000	0.80943	2.763000	0.94921	0.655000	0.94253	GGA		TCGA-HZ-A4BK-01A-11D-A26I-08	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	1	0	0	47	603	0	68	1	7.157879e-01	4	30	0	68	2		0	0	0	0	0	2	1	1.000000	47	602	0	68	2								-2.690405	1	0	0	0		1	1	2	3	2.081589	0	0.320000	1.790000	0.322169	0.450000	0.330000	0.610000	0.450000	0.465391	0.450000	0	3.900000e-01	5.300000e-01
BMPR1A	657	broad.mit.edu	37	10	88659808	88659808	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:88659808G>A	ENST00000372037.3	+	7	992	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA			24					GGCAGCATTCGATGGCTGGTT	0.353000			Mis, N, F			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				Ovarian(190;603 2086 22044 30335 47971)	yes	Rec		Juvenile polyposis	10	10q22.3	657	bone morphogenetic protein receptor, type IA		E	0							SO:0001583	missense	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	ENST00000372037.3	1	1	hg19	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.402822	0.25291	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.82803	-1.65	4.77	4.77	0.60923	.	0.114590	0.64402	D	0.000014	T	0.69441	0.3111	N	0.22421	0.69	0.44241	D	0.997087	B	0.10296	0.003	B	0.06405	0.002	T	0.62567	-0.6827	10	0.13108	T	0.6	.	11.4089	0.49915	0.0856:0.0:0.9144:0.0	.	152	P36894	BMR1A_HUMAN	Q	152	ENSP00000361107:R152Q	ENSP00000224764:R152Q	R	+	2	0	BMPR1A	88649788	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.120000	0.64685	2.574000	0.86865	0.563000	0.77884	CGA		TCGA-HZ-A4BK-01A-11D-A26I-08	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	1	0	0	42	507	0	44	0	4.386800e-01	1	18	0	44	2		0	0	0	0	0	2	1	1.000000	42	502	0	45	2								-10.559320	1	1	121412	1	35	1	1	2	3	2.081589	0	0.320000	1.790000	0.322169	0.480000	0.350000	0.650000	0.480000	0.492459	0.480000	0	4.100000e-01	5.600000e-01
MMRN2	79812	broad.mit.edu	37	10	88702455	88702455	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:88702455C>T	ENST00000372027.5	-	6	2407	c.2086G>A	c.(2086-2088)Ggg>Agg	p.G696R	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2			19					CGCGCCAGCCCGGCCAGGGCG	0.776000																								0							SO:0001583	missense			ENST00000372027.5	0	1	hg19	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.081066	0.20309	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.14144	2.53	4.85	-1.39	0.08997	.	1.310930	0.05269	N	0.517137	T	0.11324	0.0276	L	0.56769	1.78	0.09310	N	1	P;P;P	0.49961	0.93;0.645;0.93	B;B;B	0.30716	0.119;0.037;0.09	T	0.46569	-0.9182	10	0.35671	T	0.21	-7.3288	9.3618	0.38201	0.0:0.3617:0.5044:0.1339	.	474;635;696	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	R	696;474	ENSP00000361097:G696R	ENSP00000361097:G696R	G	-	1	0	MMRN2	88692435	0.000000	0.05858	0.005000	0.12908	0.067000	0.16453	-0.154000	0.10130	0.055000	0.16094	0.305000	0.20034	GGG		TCGA-HZ-A4BK-01A-11D-A26I-08	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	1	0	0	9	62	0	8	0	6.375157e-01	0	16	0	8	2		0	0	0	0	0	2	1	0.994557	9	60	0	8	2								-16.452200	1	1	0	0		1	1	2	3	2.081589	0	0.320000	1.790000	0.322169	0.810000	0.410000	1.000000	1.000000	0.796554	0.810000	0	5.800000e-01	1
PAPSS2	9060	broad.mit.edu	37	10	89419767	89419767	+	Splice_Site	SNP	T	T	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:89419767T>C	ENST00000361175.4	+	1	396		c.e1+2		PAPSS2_ENST00000456849.1_Splice_Site|RP11-57C13.6_ENST00000438082.1_lincRNA|RP11-57C13.3_ENST00000354527.2_RNA|PAPSS2_ENST00000427144.2_5'Flank	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2			20		Melanoma(5;0.019)|Colorectal(252;0.123)			CAAAAGACGGTAGGCTTCCAG	0.731000																								0							SO:0001630	splice_region_variant			ENST00000361175.4	0	1	hg19	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263517	0.59431	.	.	ENSG00000198682	ENST00000361175;ENST00000456849	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7299	0.40355	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPSS2	89409747	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.292000	0.51772	1.794000	0.52575	0.379000	0.24179	.		TCGA-HZ-A4BK-01A-11D-A26I-08	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1	1	0	0	8	84	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	0.989525	8	83	0	19	2								-13.595830	1	1	0	0		1	1	2	3	2.081589	0	0.320000	1.790000	0.322169	0.560000	0.270000	1.000000	1.000000	0.588508	0.560000	0	4.000000e-01	7.800000e-01
TUBB8	347688	broad.mit.edu	37	10	94025	94025	+	Missense_Mutation	SNP	T	T	C	rs143154682	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:94025T>C	ENST00000309812.4	-	4	369	c.307A>G	c.(307-309)Aag>Gag	p.K103E	TUBB8_ENST00000447903.2_Missense_Mutation_p.K31E|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Silent_p.P66P	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII			32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)			TAGTGTCCCTTGGCCCAGTTG	0.577000													Pancreas(192;2041 3010 9013 18103)											0							SO:0001583	missense			ENST00000309812.4	1	0	hg19	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332365	0.41297	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.70399	-0.48	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.078738	0.47455	U	0.000224	D	0.83700	0.5311	H	0.96805	3.885	0.33195	D	0.551322	P;D	0.56968	0.646;0.978	P;P	0.59221	0.621;0.854	T	0.83158	-0.0100	9	0.87932	D	0	.	4.5487	0.12098	0.0:6.0E-4:0.0:0.9994	.	66;103	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	E	31;69;66;103	ENSP00000403895:K31E	ENSP00000272035:K69E	K	-	1	0	RP11-631M21.2	84025	1.000000	0.71417	0.357000	0.25798	0.361000	0.29550	5.418000	0.66429	0.103000	0.17682	0.102000	0.15555	AAG		TCGA-HZ-A4BK-01A-11D-A26I-08	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	0	0	1	48	164	0	33	0	0	1	0	0	33	2		0	0	0	0	0	2	1	1.000000	38	156	0	35	2								-1.306220	0	1	121412	6340	60	1						0.320000	1.790000									0	0
DSCAML1	57453	broad.mit.edu	37	11	117307888	117307888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:117307888G>A	ENST00000321322.6	-	26	4851	c.4850C>T	c.(4849-4851)gCg>gTg	p.A1617V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1347V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1			110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)			GCCGCAGCCCGCACTGTTGCA	0.642000																								0							SO:0001583	missense			ENST00000321322.6	1	1	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639853	0.67244	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.56611	0.45;0.45	4.1	4.1	0.47936	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73916	0.3648	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79507	-0.1775	9	0.87932	D	0	.	16.9031	0.86118	0.0:0.0:1.0:0.0	.	1557	Q8TD84	DSCL1_HUMAN	V	1347;1617;1324	ENSP00000434335:A1347V;ENSP00000315465:A1617V	ENSP00000315465:A1617V	A	-	2	0	DSCAML1	116813098	1.000000	0.71417	0.952000	0.39060	0.376000	0.30014	7.807000	0.86032	2.286000	0.76751	0.655000	0.94253	GCG		TCGA-HZ-A4BK-01A-11D-A26I-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	0	0	0	32	445	1	106	0	1.994647e-01	0	12	1	106	2		0	0	0	0	0	2	1	0.993304	31	438	1	104	16								-3.318771	1	1	0	0		1	0	1	1	1.964809	0	0.320000	1.790000	0.269759	0.380000	0.270000	0.530000	0.390000	0.398690	0.380000	0	3.200000e-01	4.600000e-01
OR52D1	390066	broad.mit.edu	37	11	5510886	5510886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:5510886C>A	ENST00000322641.5	+	1	972	c.950C>A	c.(949-951)tCa>tAa	p.S317*	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	p.S317L(1)		22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)			GGGAAGACTTCAATATGAATG	0.423000																								1	Substitution - Missense(1)						SO:0001587	stop_gained			ENST00000322641.5	0	1	hg19	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370450	0.42003	.	.	ENSG00000181609	ENST00000322641	.	.	.	4.75	0.744	0.18353	.	1.338280	0.05072	N	0.481801	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3458	0.21349	0.0:0.5709:0.0:0.4291	.	.	.	.	X	317	.	ENSP00000326232:S317X	S	+	2	0	OR52D1	5467462	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.659000	0.24994	0.304000	0.22809	0.655000	0.94253	TCA		TCGA-HZ-A4BK-01A-11D-A26I-08	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	1	0	0	24	351	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1.000000	23	349	0	27	2								-3.221903	1	1	0	0		1	0	1	1	1.963308	0	0.320000	1.790000	0.278438	0.370000	0.240000	0.530000	0.380000	0.387892	0.370000	0	3.000000e-01	4.600000e-01
BEST1	7439	broad.mit.edu	37	11	61719315	61719315	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:61719315C>T	ENST00000378043.4	+	2	680	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000435278.2_Missense_Mutation_p.R13C|BEST1_ENST00000378042.3_5'UTR	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1			25					GGCTAATGCCCGCTTAGGCTC	0.572000																								0							SO:0001583	missense			ENST00000378043.4	1	1	hg19	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752660	0.89753	.	.	ENSG00000167995	ENST00000378043;ENST00000435278	D;D	0.98280	-4.27;-4.84	5.46	5.46	0.80206	.	0.155755	0.44285	U	0.000476	D	0.99202	0.9723	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.949	D	0.99289	1.0898	10	0.72032	D	0.01	.	18.9153	0.92503	0.0:1.0:0.0:0.0	.	13;13	B7Z375;O76090	.;BEST1_HUMAN	C	13	ENSP00000367282:R13C;ENSP00000408390:R13C	ENSP00000367282:R13C	R	+	1	0	BEST1	61475891	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.891000	0.63185	2.567000	0.86603	0.561000	0.74099	CGC		TCGA-HZ-A4BK-01A-11D-A26I-08	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	1	0	0	42	529	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1.000000	39	478	0	82	2								-2.559126	1	1	0	0		1	0	1	1	1.943550	0	0.320000	1.790000	0.273504	0.420000	0.310000	0.560000	0.430000	0.436964	0.420000	0	3.600000e-01	5.000000e-01
DCHS1	8642	broad.mit.edu	37	11	6650981	6650981	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:6650981C>G	ENST00000299441.3	-	11	5368	c.4957G>C	c.(4957-4959)Gag>Cag	p.E1653Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			ACGCTGTACTCCTGCTGCTGG	0.647000																								0							SO:0001583	missense			ENST00000299441.3	1	1	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	6.206	0.406103	0.11754	.	.	ENSG00000166341	ENST00000299441	T	0.03212	4.01	5.25	5.25	0.73442	Cadherin (2);Cadherin-like (1);	0.136757	0.33144	N	0.005227	T	0.03348	0.0097	N	0.17723	0.515	0.37504	D	0.916866	B	0.22346	0.068	B	0.13407	0.009	T	0.51965	-0.8638	10	0.12766	T	0.61	.	18.0234	0.89261	0.0:1.0:0.0:0.0	.	1653	Q96JQ0	PCD16_HUMAN	Q	1653	ENSP00000299441:E1653Q	ENSP00000299441:E1653Q	E	-	1	0	DCHS1	6607557	0.027000	0.19231	1.000000	0.80357	0.045000	0.14185	2.816000	0.48026	2.744000	0.94065	0.563000	0.77884	GAG		TCGA-HZ-A4BK-01A-11D-A26I-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1	27	169	0	37	0	5.168233e-01	0	12	0	37	2		0	0	0	0	0	2	1	1.000000	25	167	0	36	2								-20.000000	1	1	0	0		1	0	1	1	1.963308	0	0.320000	1.790000	0.278438	0.800000	0.550000	1.000000	1.000000	0.813103	0.800000	0	6.700000e-01	9.600000e-01
RIMBP2	23504	broad.mit.edu	37	12	130935797	130935797	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:130935797G>A	ENST00000261655.4	-	5	559	c.396C>T	c.(394-396)tcC>tcT	p.S132S	RIMBP2_ENST00000536002.1_Silent_p.S40S|RIMBP2_ENST00000535703.1_Silent_p.S40S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	p.S132S(1)		96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)			TGGGCTTGGCGGACAGAGGCT	0.642000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000261655.4	1	1	hg19	CCDS31925.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	1	0	1	72	319	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	1.000000	71	314	0	76	2								-3.256130	1	1	121412	3	37	1	0	1	1	2.064127	0	0.320000	1.790000	0.318910	0.990000	0.910000	1.000000	1.000000	0.994680	0.990000	1	9.900000e-01	1
ABCC9	10060	broad.mit.edu	37	12	22025599	22025599	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:22025599C>T	ENST00000261201.4	-	16	2157	c.2158G>A	c.(2158-2160)Ggt>Agt	p.G720S	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G684S|ABCC9_ENST00000261200.4_Missense_Mutation_p.G720S	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	p.G720C(2)		118				Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TGCATCTCACCGAGGATGGCA	0.418000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000261201.4	1	1	hg19	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413057	0.96072	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96160	0.8748	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96238	0.9173	10	0.87932	D	0	-13.3901	19.6499	0.95796	0.0:1.0:0.0:0.0	.	720;720	O60706;O60706-2	ABCC9_HUMAN;.	S	720;347;720;684	ENSP00000261200:G720S;ENSP00000440521:G347S;ENSP00000261201:G720S;ENSP00000261202:G684S	ENSP00000261200:G720S	G	-	1	0	ABCC9	21916866	1.000000	0.71417	0.917000	0.36280	0.909000	0.53808	7.600000	0.82769	2.814000	0.96858	0.563000	0.77884	GGT		TCGA-HZ-A4BK-01A-11D-A26I-08	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	1	0	0	65	809	0	133	0	3.107421e-02	0	4	0	133	2		0	0	0	0	0	2	1	1.000000	64	801	0	133	2								-2.578431	1	1	121412	3	41	1	0	0	0	1.875591	1	0.320000	1.790000	0.247788	0.410000	0.320000	0.520000	0.420000	0.424208	0.410000	0	3.600000e-01	4.700000e-01
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-A4BK-01A-11D-A26I-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	37	81	0	13	1	9.985002e-01	16	10	0	13	2	1	1	193	440	0	476	2	1	1.000000	37	79	0	13	2								-20.000000	1	1	121404	2	44	1	1	3	4	2.509416	1	0.320000	1.790000	0.447334	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRB	5787	broad.mit.edu	37	12	70965613	70965613	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:70965613C>T	ENST00000261266.5	-	10	2472	c.2443G>A	c.(2443-2445)Ggg>Agg	p.G815R	PTPRB_ENST00000334414.6_Missense_Mutation_p.G1033R|PTPRB_ENST00000538708.1_Missense_Mutation_p.G815R|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1032R|PTPRB_ENST00000451516.2_Missense_Mutation_p.G725R|PTPRB_ENST00000550358.1_Missense_Mutation_p.G945R|PTPRB_ENST00000550857.1_Missense_Mutation_p.G725R	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B			107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		CTTGTTCTCCCATTCCCTTGT	0.378000																								0							SO:0001583	missense			ENST00000261266.5	0	1	hg19	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719849	0.68844	0.0	2.44E-4	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.04862	4.04;4.03;4.01;4.05;4.03;4.08;3.54;3.58	5.96	4.9	0.64082	Fibronectin, type III (1);	0.105396	0.64402	D	0.000004	T	0.21921	0.0528	M	0.75777	2.31	0.48830	D	0.999717	D;D;D;D;D;D;D	0.71674	0.996;0.996;0.963;0.963;0.998;0.996;0.996	D;D;D;P;D;D;D	0.77557	0.99;0.99;0.914;0.884;0.99;0.967;0.976	T	0.01078	-1.1459	10	0.19590	T	0.45	.	14.3289	0.66541	0.0:0.9205:0.0:0.0795	.	725;815;912;1032;1033;815;945	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	R	1033;725;945;815;725;815;1032;912	ENSP00000334928:G1033R;ENSP00000393028:G725R;ENSP00000448058:G945R;ENSP00000438927:G815R;ENSP00000447302:G725R;ENSP00000261266:G815R;ENSP00000448349:G1032R;ENSP00000446982:G912R	ENSP00000261266:G815R	G	-	1	0	PTPRB	69251880	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	4.846000	0.62860	2.832000	0.97577	0.655000	0.94253	GGG		TCGA-HZ-A4BK-01A-11D-A26I-08	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	0	0	0	11	387	1	31	0	5.568229e-03	0	4	1	31	2		0	0	0	0	0	2	0	0.000393	11	383	1	31	33								-2.614571	1	1	120838	37	45	1	0	1	1	2.064127	0	0.320000	1.790000	0.318910	0.170000	0.090000	0.290000	0.170000	0.186197	0.170000	0	1.200000e-01	2.400000e-01
N6AMT2	221143	broad.mit.edu	37	13	21311867	21311867	+	Silent	SNP	A	A	C	rs140127205		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr13:21311867A>C	ENST00000382758.1	-	3	269	c.222T>G	c.(220-222)ggT>ggG	p.G74G	N6AMT2_ENST00000382754.4_Silent_p.G74G			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)			7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)			CTCACCTGCCACCTTCTCCTA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000382758.1	0	0	hg19	CCDS9293.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	1	0	1	10	62	0	10	0	4.427470e-01	1	9	0	10	2		0	0	0	0	0	2	1	0.997569	10	62	0	10	2								-8.168176	1	0	121412	1	32	1	0	0	0	1.964807	0	0.320000	1.790000	0.283305	0.820000	0.440000	1.000000	1.000000	0.810502	0.820000	0	6.100000e-01	1
MYH7	4625	broad.mit.edu	37	14	23898246	23898246	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr14:23898246C>T	ENST00000355349.3	-	14	1487	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta			137	all_cancers(95;2.54e-05)				GGCATTGATGCGCGTCACCAT	0.557000																								0		GRCh37	CM066922	MYH7	M		SO:0001583	missense			ENST00000355349.3	1	1	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.429693	0.83776	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88741	-2.42	4.18	4.18	0.49190	Myosin head, motor domain (2);	.	.	.	.	D	0.95513	0.8542	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96729	0.9538	9	0.87932	D	0	.	16.6862	0.85309	0.0:1.0:0.0:0.0	.	442	P12883	MYH7_HUMAN	H	442	ENSP00000347507:R442H	ENSP00000347507:R442H	R	-	2	0	MYH7	22968086	0.566000	0.26618	0.974000	0.42286	0.583000	0.36354	5.795000	0.69074	2.166000	0.68216	0.455000	0.32223	CGC		TCGA-HZ-A4BK-01A-11D-A26I-08	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	1	0	0	30	479	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1.000000	30	472	0	84	2								-2.920770	1	1	121412	2	34	1	1	2	3	2.112338	0	0.320000	1.790000	0.328594	0.370000	0.250000	1.000000	0.370000	0.422203	0.370000	0	3.100000e-01	4.700000e-01
GFER	2671	broad.mit.edu	37	16	2034871	2034871	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr16:2034871G>T	ENST00000248114.6	+	2	388	c.382G>T	c.(382-384)Gac>Tac	p.D128Y	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_Intron|GFER_ENST00000567719.1_Missense_Mutation_p.D53Y	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration			5				Flavin adenine dinucleotide(DB03147)	ACAGCAGCAAGACATGGCCCA	0.567000																								0							SO:0001583	missense			ENST00000248114.6	1	1	hg19	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125726	0.94429	.	.	ENSG00000127554	ENST00000248114;ENST00000425414	T	0.64991	-0.13	4.52	4.52	0.55395	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.050318	0.85682	D	0.000000	T	0.71264	0.3319	M	0.83483	2.645	0.58432	D	0.999999	P;P	0.46064	0.85;0.872	B;P	0.46237	0.258;0.508	T	0.78881	-0.2029	10	0.87932	D	0	-26.419	16.3969	0.83610	0.0:0.0:1.0:0.0	.	54;128	Q9UQK8;P55789	.;ALR_HUMAN	Y	128;48	ENSP00000248114:D128Y	ENSP00000248114:D128Y	D	+	1	0	GFER	1974872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.026000	0.93700	2.330000	0.79161	0.609000	0.83330	GAC		TCGA-HZ-A4BK-01A-11D-A26I-08	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	1	0	1	34	420	0	90	1	9.812473e-01	12	68	0	90	2		0	0	0	0	0	2	1	1.000000	34	418	0	89	2								-20.000000	1	1	0	0		1	0	1	1	1.956849	0	0.320000	1.790000	0.272260	0.430000	0.300000	0.590000	0.430000	0.445613	0.430000	0	3.600000e-01	5.100000e-01
CHST4	10164	broad.mit.edu	37	16	71570744	71570744	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr16:71570744C>T	ENST00000338482.5	+	3	507	c.164C>T	c.(163-165)tCt>tTt	p.S55F	RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.S55F|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.S55F			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4			21					CGCTCTGGCTCTTCTTTTGTG	0.567000																								0							SO:0001583	missense			ENST00000338482.5	1	1	hg19	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.007182	0.93287	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.84298	-1.83;-1.83	6.0	6.0	0.97389	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94798	0.8320	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95535	0.8607	10	0.87932	D	0	-16.064	17.9887	0.89162	0.0:1.0:0.0:0.0	.	55	Q8NCG5	CHST4_HUMAN	F	55	ENSP00000341206:S55F;ENSP00000441204:S55F	ENSP00000341206:S55F	S	+	2	0	CHST4	70128245	1.000000	0.71417	0.960000	0.40013	0.968000	0.65278	7.794000	0.85869	2.848000	0.98002	0.655000	0.94253	TCT		TCGA-HZ-A4BK-01A-11D-A26I-08	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	1	0	0	38	471	0	51	1	9.994422e-01	5	135	0	51	2		0	0	0	0	0	2	1	1.000000	38	464	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.278718	1	0.320000	1.790000	0.384058	0.540000	0.370000	1.000000	0.510000	0.629360	0.540000	0	4.500000e-01	1
KRT37	8688	broad.mit.edu	37	17	39577780	39577780	+	Silent	SNP	G	G	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:39577780G>C	ENST00000225550.3	-	6	1079	c.1080C>G	c.(1078-1080)gcC>gcG	p.A360A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37			25		Breast(137;0.000496)			TCTGCATCTGGGCCAGCTCTG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000225550.3	1	1	hg19	CCDS32653.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	1	0	1	40	190	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1.000000	39	190	0	30	2								-3.226081	1	1	0	0		1	0	1	1	1.953449	0	0.320000	1.790000	0.265976	0.990000	0.740000	1.000000	1.000000	0.948601	0.990000	1	8.600000e-01	1
DHX8	1659	broad.mit.edu	37	17	41566830	41566830	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:41566830C>T	ENST00000262415.3	+	2	234	c.162C>T	c.(160-162)atC>atT	p.I54I	DHX8_ENST00000540306.1_Silent_p.I54I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8			42		Breast(137;0.00908)			AATTTGTGATCAGTCTTGCTG	0.333000													NSCLC(56;1548 1661 49258 49987)											0							SO:0001819	synonymous_variant			ENST00000262415.3	1	1	hg19	CCDS11464.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1	1	0	1	55	425	0	33	1	9.943996e-01	34	29	0	33	2		0	0	0	0	0	2	1	1.000000	55	418	0	33	2								-19.649920	1	1	0	0		1	1	2	3	2.297785	1	0.320000	1.790000	0.390244	0.820000	0.620000	1.000000	0.790000	0.843197	0.820000	0	7.100000e-01	1
PLEKHM1	9842	broad.mit.edu	37	17	43531559	43531559	+	Silent	SNP	G	G	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:43531559G>C	ENST00000430334.3	-	7	1792	c.1659C>G	c.(1657-1659)ctC>ctG	p.L553L	PLEKHM1_ENST00000421073.2_Silent_p.L464L|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1			26	Renal(3;0.0405)				GCTCGCAGAAGAGCTCCTTCC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000430334.3	1	1	hg19	CCDS32671.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	1	0	1	25	99	0	21	1	9.977731e-01	13	28	0	21	2		0	0	0	0	0	2	1	1.000000	25	97	0	21	2								-20.000000	1	1	0	0		1	0	1	1	1.958797	0	0.320000	1.790000	0.288107	0.990000	0.810000	1.000000	1.000000	0.984408	0.990000	1	9.900000e-01	1
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	T	rs28934874		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:7578479G>T	ENST00000269305.4	-	5	640	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	TP53_ENST00000445888.2_Missense_Mutation_p.P151T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000420246.2_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T	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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CCGGGCGGGGGTGTGGAATCA	0.612000		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	156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	GRCh37	CM012662|CM941326	TP53	M	rs28934874	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136405	0.56936	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99884	-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999983	D;P;D;D;P;P;D	0.89917	0.999;0.711;0.994;0.982;0.882;0.755;1.0	D;P;D;D;P;P;D	0.97110	0.981;0.749;0.961;0.954;0.736;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151T;ENSP00000352610:P151T;ENSP00000269305:P151T;ENSP00000398846:P151T;ENSP00000391127:P151T;ENSP00000391478:P151T;ENSP00000425104:P19T;ENSP00000423862:P58T;ENSP00000424104:P151T	ENSP00000269305:P151T	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		TCGA-HZ-A4BK-01A-11D-A26I-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	45	222	0	62	1	9.998693e-01	31	38	0	62	2	1	1	282	1097	1	1746	5	1	1.000000	44	216	0	62	2								-19.999960	1	1	0	0		1	0	1	1	1.793607	1	0.320000	1.790000	0.193548	0.850000	0.650000	1.000000	1.000000	0.856571	0.850000	1	7.500000e-01	9.600000e-01
ZSWIM4	65249	broad.mit.edu	37	19	13915898	13915898	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:13915898G>A	ENST00000254323.2	+	3	837	c.648G>A	c.(646-648)ctG>ctA	p.L216L	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4			27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		CTGAGGTGCTGCCCACTGCTC	0.622000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000254323.2	1	1	hg19	CCDS32924.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	1	0	1	36	186	0	51	1	7.260347e-01	5	10	0	51	2		0	0	0	0	0	2	1	1.000000	36	186	0	49	2								-20.000000	1	1	0	0		1	0	0	0	2.052404	0	0.320000	1.790000	0.315620	0.990000	0.720000	1.000000	1.000000	0.947141	0.990000	1	8.500000e-01	1
PKN1	5585	broad.mit.edu	37	19	14581423	14581423	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:14581423G>A	ENST00000242783.6	+	20	2638	c.2473G>A	c.(2473-2475)Gac>Aac	p.D825N	PKN1_ENST00000342216.4_Missense_Mutation_p.D831N	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1			31					GGAGGTCTTCGACAGCATCGT	0.672000													NSCLC(185;2539 2965 10733 52867)											0							SO:0001583	missense			ENST00000242783.6	0	1	hg19	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392493	0.83011	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.53206	0.63;0.63	4.18	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.55194	0.1905	N	0.25992	0.78	0.47276	D	0.999378	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60757	-0.7200	10	0.87932	D	0	-20.007	14.0135	0.64511	0.0:0.0:1.0:0.0	.	831;825	Q16512-2;Q16512	.;PKN1_HUMAN	N	825;831	ENSP00000242783:D825N;ENSP00000343325:D831N	ENSP00000242783:D825N	D	+	1	0	PKN1	14442423	1.000000	0.71417	0.977000	0.42913	0.569000	0.35902	9.037000	0.93765	2.177000	0.69029	0.555000	0.69702	GAC		TCGA-HZ-A4BK-01A-11D-A26I-08	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	1	0	0	8	80	0	17	1	9.999999e-01	32	567	0	17	2		0	0	0	0	0	2	1	0.990495	8	80	0	17	2								-13.536980	1	1	0	0		1	0	0	0	2.052404	0	0.320000	1.790000	0.315620	0.580000	0.280000	0.990000	1.000000	0.602676	0.580000	0	4.100000e-01	7.900000e-01
ZNF681	148213	broad.mit.edu	37	19	23927097	23927097	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:23927097C>G	ENST00000402377.3	-	4	1396	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	ZNF681_ENST00000395385.3_Missense_Mutation_p.E350Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681			21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)			TAGGGTTTTTCTCCAGTATGA	0.368000																								0							SO:0001583	missense			ENST00000402377.3	1	1	hg19	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	10.28	1.307625	0.23821	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.25912	1.77;1.77	1.51	1.51	0.23008	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42988	0.1227	L	0.56769	1.78	0.23820	N	0.996755	D	0.89917	1.0	D	0.83275	0.996	T	0.11916	-1.0568	9	0.66056	D	0.02	.	8.4797	0.33034	0.0:1.0:0.0:0.0	.	419	Q96N22	ZN681_HUMAN	Q	419;350	ENSP00000384000:E419Q;ENSP00000378783:E350Q	ENSP00000378783:E350Q	E	-	1	0	ZNF681	23718937	0.277000	0.24220	0.053000	0.19242	0.038000	0.13279	2.609000	0.46317	0.798000	0.33994	0.313000	0.20887	GAA		TCGA-HZ-A4BK-01A-11D-A26I-08	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	1	0	0	17	276	0	26	0	0	0	1	0	26	2		0	0	0	0	0	2	1	0.999967	17	274	0	26	2								-19.547280	1	1	0	0		1	0	0	0	2.052404	0	0.320000	1.790000	0.315620	0.360000	0.220000	0.550000	0.360000	0.376120	0.360000	0	2.800000e-01	4.600000e-01
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:43430713G>A	ENST00000406070.2	-	0	961				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)					Prostate(69;0.00682)			TTTTCAATGCGTCGCTTTACC	0.493000																								0											ENST00000406070.2	1	1	hg19																																																																																					TCGA-HZ-A4BK-01A-11D-A26I-08	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	0	0	0	162	1944	0	286		0	0	0	0	286	2		0	0	0	0	0	2	1	1.000000	122	1517	0	286	2								-20.000000	1	1	0	0		1	2	2	4	2.170201	0	0.320000	1.790000	0.353120	0.500000	0.420000	1.000000	0.510000	0.569502	0.500000	0	4.600000e-01	5.800000e-01
COL11A1	1301	broad.mit.edu	37	1	103453235	103453235	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:103453235G>C	ENST00000370096.3	-	30	2768	c.2456C>G	c.(2455-2457)gCa>gGa	p.A819G	COL11A1_ENST00000512756.1_Missense_Mutation_p.A703G|COL11A1_ENST00000358392.2_Missense_Mutation_p.A831G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A780G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1			258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)			AGTTGGGCCTGCTCGACCTTT	0.473000																								0							SO:0001583	missense			ENST00000370096.3	1	1	hg19	CCDS778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.34|11.34	1.608907|1.608907	0.28623|0.28623	.|.	.|.	ENSG00000060718|ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756|ENST00000370090	D;D;D;D|.	0.83755|.	-1.76;-1.76;-1.76;-1.76|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	0.140030|.	0.47455|.	D|.	0.000236|.	T|T	0.37758|0.37758	0.1015|0.1015	N|N	0.25332|0.25332	0.735|0.735	0.48511|0.48511	D|D	0.999661|0.999661	B;B;B;B|B	0.25441|0.13145	0.126;0.073;0.073;0.043|0.007	B;B;B;B|B	0.28784|0.14023	0.094;0.088;0.088;0.04|0.01	T|T	0.24261|0.24261	-1.0165|-1.0165	10|8	0.22706|0.39692	T|T	0.39|0.17	.|.	17.507|17.507	0.87748|0.87748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	703;780;831;819|34	E9PCU0;P12107-3;P12107-2;P12107|F5H5Z5	.;.;.;COBA1_HUMAN|.	G|E	819;831;780;703|34	ENSP00000359114:A819G;ENSP00000351163:A831G;ENSP00000302551:A780G;ENSP00000426533:A703G|.	ENSP00000302551:A780G|ENSP00000359108:Q34E	A|Q	-|-	2|1	0|0	COL11A1|COL11A1	103225823|103225823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.751000|0.751000	0.42716|0.42716	7.157000|7.157000	0.77461|0.77461	2.417000|2.417000	0.82017|0.82017	0.460000|0.460000	0.39030|0.39030	GCA|CAG		TCGA-HZ-A4BK-01A-11D-A26I-08	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	1	0	0	26	353	0	57	0	6.270098e-01	0	30	0	57	2		0	0	0	0	0	2	1	1.000000	26	347	0	56	2								-3.142687	1	1	121392	1	30	1	1	2	3	2.108766	0	0.320000	1.790000	0.327532	0.440000	0.290000	1.000000	0.430000	0.476370	0.440000	0	3.600000e-01	5.500000e-01
NTNG1	22854	broad.mit.edu	37	1	108023321	108023321	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:108023321G>A	ENST00000370068.1	+	8	2325	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	NTNG1_ENST00000370070.2_Silent_p.T414T|NTNG1_ENST00000542803.1_Silent_p.T493T|NTNG1_ENST00000370073.2_Silent_p.T493T|NTNG1_ENST00000370066.1_Silent_p.T434T|NTNG1_ENST00000370074.4_Silent_p.T392T|NTNG1_ENST00000370065.1_Silent_p.T448T|NTNG1_ENST00000370072.3_Silent_p.T448T|NTNG1_ENST00000370067.1_Silent_p.T414T|NTNG1_ENST00000370061.3_Silent_p.T459T|NTNG1_ENST00000370071.2_Silent_p.T434T			Q9Y2I2	NTNG1_HUMAN	netrin G1			37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)			CCGCATACACGGGCATCCTCT	0.687000																								0							SO:0001819	synonymous_variant			ENST00000370068.1	1	1	hg19	CCDS44180.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	1	0	0	9	136	0	26	0	0	0	1	0	26	2		0	0	0	0	0	2	1	0.994688	9	136	0	25	2								-2.750477	1	1	121328	1	31	1	1	2	3	2.108766	0	0.320000	1.790000	0.327532	0.410000	0.200000	1.000000	0.390000	0.455991	0.410000	0	2.900000e-01	5.900000e-01
PTCHD2	57540	broad.mit.edu	37	1	11595630	11595630	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:11595630G>A	ENST00000294484.6	+	20	3883	c.3745G>A	c.(3745-3747)Gtg>Atg	p.V1249M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1249M|PTCHD2_ENST00000304391.6_Missense_Mutation_p.R135H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2			76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)			TGGCTCCTCCGTGGATTACTG	0.647000																								0							SO:0001583	missense			ENST00000294484.6	1	1	hg19	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.12|18.12	3.552516|3.552516	0.65425|0.65425	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.94457	.|-3.43;-2.84	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Membrane transport protein, MMPL type (1);	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.97334|0.97334	0.9128|0.9128	M|M	0.81802|0.81802	2.56|2.56	0.48185|0.48185	D|D	0.999605|0.999605	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97740|0.97740	1.0208|1.0208	6|10	0.87932|0.72032	D|D	0|0.01	-24.6787|-24.6787	18.4583|18.4583	0.90729|0.90729	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1249	.|Q9P2K9	.|PTHD2_HUMAN	H|M	135|1249	.|ENSP00000294484:V1249M;ENSP00000374226:V1249M	ENSP00000303400:R135H|ENSP00000294484:V1249M	R|V	+|+	2|1	0|0	PTCHD2|PTCHD2	11518217|11518217	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.766000|0.766000	0.43426|0.43426	7.578000|7.578000	0.82498|0.82498	2.604000|2.604000	0.88044|0.88044	0.655000|0.655000	0.94253|0.94253	CGT|GTG		TCGA-HZ-A4BK-01A-11D-A26I-08	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	1	0	0	30	396	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1.000000	30	390	0	76	2								-20.000000	1	1	0	0		1	0	1	1	1.957420	0	0.320000	1.790000	0.260870	0.400000	0.270000	0.550000	0.400000	0.413711	0.400000	0	3.300000e-01	4.800000e-01
CPSF3L	54973	broad.mit.edu	37	1	1254756	1254756	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:1254756C>T	ENST00000435064.1	-	4	431	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CPSF3L_ENST00000540437.1_Missense_Mutation_p.E123K|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E117K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E88K|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000462432.1_5'Flank|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000419704.1_Intron|RP5-890O3.9_ENST00000444968.1_RNA	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like			13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			AAGTTGGCCTCGCCCTTCTTG	0.597000																								0							SO:0001583	missense			ENST00000435064.1	1	1	hg19	CCDS21.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371699	0.82573	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.85;0.8;0.87;0.86;0.8	4.61	4.61	0.57282	Beta-lactamase-like (2);	0.112509	0.64402	D	0.000012	T	0.56804	0.2010	L	0.55017	1.72	0.80722	D	1	P;D;P;P	0.64830	0.541;0.994;0.541;0.596	B;P;B;B	0.62491	0.197;0.903;0.197;0.201	T	0.53165	-0.8477	10	0.02654	T	1	-40.1331	17.6427	0.88141	0.0:1.0:0.0:0.0	.	117;136;123;117	Q5TA45-3;Q5TA51;G3V1S5;Q5TA45	.;.;.;INT11_HUMAN	K	117;129;123;117;88;117;123;164;118	ENSP00000413493:E117K;ENSP00000445001:E123K;ENSP00000392848:E117K;ENSP00000444672:E88K;ENSP00000411233:E117K;ENSP00000436743:E123K;ENSP00000432009:E164K;ENSP00000435772:E118K	ENSP00000294579:E129K	E	-	1	0	CPSF3L	1244619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.580000	0.82523	2.399000	0.81585	0.561000	0.74099	GAG		TCGA-HZ-A4BK-01A-11D-A26I-08	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	1	0	1	204	877	0	188	1	1	40	99	0	188	2		0	0	0	0	0	2	1	1.000000	202	873	0	188	2								-3.105670	1	1	121406	1	15	1	0	1	1	1.995128	0	0.320000	1.790000	0.286913	0.990000	0.980000	1.000000	1.000000	0.999070	0.990000	1	9.900000e-01	1
PI4KB	5298	broad.mit.edu	37	1	151288137	151288137	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:151288137C>T	ENST00000368873.1	-	2	989	c.821G>A	c.(820-822)cGc>cAc	p.R274H	PI4KB_ENST00000271657.5_Missense_Mutation_p.R286H|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Missense_Mutation_p.R274H|PI4KB_ENST00000368875.2_Missense_Mutation_p.R286H|PI4KB_ENST00000368872.1_Missense_Mutation_p.R274H			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta			27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		TGACTTAGAGCGCTGGTGAGT	0.547000													Colon(154;765 1838 9854 28443 37492)											0							SO:0001583	missense			ENST00000368873.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	26.6	4.755904	0.89843	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.994;1.0	T	0.82548	-0.0402	10	0.72032	D	0.01	-14.1955	17.2599	0.87067	0.0:1.0:0.0:0.0	.	274;274;274	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	H	274;286;286;274;274;274	ENSP00000357868:R274H;ENSP00000357869:R286H;ENSP00000271657:R286H;ENSP00000357867:R274H;ENSP00000357866:R274H;ENSP00000394719:R274H	ENSP00000271657:R286H	R	-	2	0	PI4KB	149554761	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.567000	0.82357	2.654000	0.90174	0.561000	0.74099	CGC		TCGA-HZ-A4BK-01A-11D-A26I-08	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	1	0	1	35	386	0	58	1	9.840119e-01	8	66	0	58	2		0	0	0	0	0	2	1	1.000000	35	379	0	58	2								-10.206590	1	1	121412	1	32	1	1	2	3	2.076026	0	0.320000	1.790000	0.321086	0.520000	0.370000	0.710000	0.520000	0.530096	0.520000	0	4.400000e-01	6.100000e-01
RORC	6097	broad.mit.edu	37	1	151789160	151789160	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:151789160G>A	ENST00000318247.6	-	4	385	c.278C>T	c.(277-279)gCg>gTg	p.A93V	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Missense_Mutation_p.A147V|RORC_ENST00000356728.6_Missense_Mutation_p.A72V	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C			19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		CATGCCCAGCGCCAGGCATTT	0.647000																								0							SO:0001583	missense			ENST00000318247.6	0	1	hg19	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486069	0.96323	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.97378	-4.36;-4.36;-4.36	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.174286	0.35235	U	0.003342	D	0.98150	0.9389	M	0.78223	2.4	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.75484	0.972;0.933;0.981;0.986	D	0.99342	1.0912	10	0.87932	D	0	.	16.3321	0.83039	0.0:0.0:1.0:0.0	.	93;147;93;72	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	V	72;147;93	ENSP00000349164:A72V;ENSP00000376461:A147V;ENSP00000327025:A93V	ENSP00000327025:A93V	A	-	2	0	RORC	150055784	1.000000	0.71417	0.949000	0.38748	0.988000	0.76386	4.057000	0.57455	2.436000	0.82500	0.563000	0.77884	GCG		TCGA-HZ-A4BK-01A-11D-A26I-08	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1	1	0	1	14	50	0	10	1	9.152741e-01	4	14	0	10	2		0	0	0	0	0	2	1	0.999835	14	48	0	10	2								-20.000000	1	1	121370	2	21	1	1	2	3	2.076026	0	0.320000	1.790000	0.321086	0.990000	0.810000	1.000000	1.000000	0.987193	0.990000	1	9.900000e-01	1
F5	2153	broad.mit.edu	37	1	169528443	169528443	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:169528443C>A	ENST00000367797.3	-	5	879	c.678G>T	c.(676-678)caG>caT	p.Q226H	F5_ENST00000367796.3_Missense_Mutation_p.Q226H|F5_ENST00000546081.1_Missense_Mutation_p.Q89H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)			128	all_hematologic(923;0.208)			ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGATGATGACTGGCTCCAGC	0.433000																								0							SO:0001583	missense			ENST00000367797.3	1	1	hg19	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909285	0.33721	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99758	-6.65;-6.65;-6.65	5.95	-2.03	0.07365	Cupredoxin (2);	1.478620	0.03581	N	0.230089	D	0.98128	0.9382	M	0.72118	2.19	0.32970	D	0.522265	P	0.38642	0.641	B	0.38500	0.275	D	0.99973	1.2094	9	0.41790	T	0.15	0.4292	0.4687	0.00528	0.2015:0.285:0.1978:0.3157	.	226	P12259	FA5_HUMAN	H	226;226;89	ENSP00000356771:Q226H;ENSP00000356770:Q226H;ENSP00000439664:Q89H	ENSP00000356770:Q226H	Q	-	3	2	F5	167795067	0.000000	0.05858	0.010000	0.14722	0.944000	0.59088	-0.983000	0.03759	-0.366000	0.08064	0.650000	0.86243	CAG		TCGA-HZ-A4BK-01A-11D-A26I-08	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	1	0	1	77	429	0	57	1	5.192964e-01	7	4	0	57	2		0	0	0	0	0	2	1	1.000000	77	425	0	57	2								-20.000000	1	1	0	0		1	1	2	3	2.092050	0	0.320000	1.790000	0.325397	0.960000	0.770000	1.000000	1.000000	0.940918	0.960000	1	8.600000e-01	1
RYR2	6262	broad.mit.edu	37	1	237632473	237632473	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:237632473T>C	ENST00000366574.2	+	17	2011	c.1694T>C	c.(1693-1695)cTg>cCg	p.L565P	MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000542537.1_Missense_Mutation_p.L549P|RYR2_ENST00000360064.6_Missense_Mutation_p.L563P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		TTGGAAAGACTGGAAGCTTCT	0.358000																								0							SO:0001583	missense			ENST00000366574.2	1	1	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.260538	0.59431	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95788	-3.81;-3.81;-3.81	5.14	5.14	0.70334	Intracellular calcium-release channel (1);	0.000000	0.46145	U	0.000314	D	0.96574	0.8882	M	0.63169	1.94	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.96379	0.9280	10	0.51188	T	0.08	.	12.4837	0.55859	0.0:0.0:0.0:1.0	.	565	Q92736	RYR2_HUMAN	P	565;563;549	ENSP00000355533:L565P;ENSP00000353174:L563P;ENSP00000443798:L549P	ENSP00000353174:L563P	L	+	2	0	RYR2	235699096	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.165000	0.77544	1.937000	0.56155	0.460000	0.39030	CTG		TCGA-HZ-A4BK-01A-11D-A26I-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1	42	247	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1.000000	42	245	0	23	2								-20.000000	1	0	0	0		1	1	2	3	2.084706	0	0.320000	1.790000	0.322169	0.910000	0.670000	1.000000	1.000000	0.898701	0.910000	1	7.800000e-01	1
OR2G3	81469	broad.mit.edu	37	1	247769183	247769183	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:247769183C>T	ENST00000320002.2	+	1	328	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	p.A99G(1)		50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)		GGTTGTGTGGCGCAACTCTAT	0.483000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000320002.2	1	1	hg19	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.048532	0.00394	.	.	ENSG00000177476	ENST00000320002	T	0.00940	5.52	3.8	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.891435	0.08964	N	0.868207	T	0.00666	0.0022	N	0.16567	0.415	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46034	-0.9220	10	0.02654	T	1	.	5.2568	0.15552	0.0:0.2412:0.0:0.7588	.	99	Q8NGZ4	OR2G3_HUMAN	V	99	ENSP00000326301:A99V	ENSP00000326301:A99V	A	+	2	0	OR2G3	245835806	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	-1.891000	0.01611	0.643000	0.30638	-0.468000	0.05107	GCG		TCGA-HZ-A4BK-01A-11D-A26I-08	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1	1	0	0	121	1239	0	181		0	0	0	0	181	2		0	0	0	0	0	2	1	1.000000	120	1229	0	180	2								-20.000000	1	1	121412	23	47	1	1	2	3	2.084706	0	0.320000	1.790000	0.322169	0.550000	0.460000	0.670000	0.560000	0.565065	0.550000	0	5.000000e-01	6.100000e-01
MEGF6	1953	broad.mit.edu	37	1	3422767	3422767	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:3422767C>T	ENST00000356575.4	-	15	2049	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H	MEGF6_ENST00000294599.4_Missense_Mutation_p.R503H	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6			19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)			GCATTTCTTGCGACAGTGCTT	0.657000													Ovarian(73;978 3658)											0							SO:0001583	missense			ENST00000356575.4	0	1	hg19	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	c	10.97	1.502390	0.26949	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.67698	-0.28;-0.28	3.77	-3.8	0.04307	Epidermal growth factor-like, type 3 (1);	0.438446	0.22220	N	0.062976	T	0.44393	0.1291	N	0.26042	0.785	0.20307	N	0.999918	B;B	0.17268	0.013;0.021	B;B	0.19148	0.024;0.008	T	0.17440	-1.0369	10	0.45353	T	0.12	-11.2415	6.3048	0.21133	0.0:0.3423:0.1325:0.5252	.	608;503	O75095;O75095-2	MEGF6_HUMAN;.	H	503;608	ENSP00000294599:R503H;ENSP00000348982:R608H	ENSP00000294599:R503H	R	-	2	0	MEGF6	3412627	0.045000	0.20229	0.141000	0.22245	0.901000	0.52897	0.333000	0.19768	-0.858000	0.04110	-0.494000	0.04653	CGC		TCGA-HZ-A4BK-01A-11D-A26I-08	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	1	0	0	6	57	0	14	1	9.640186e-01	2	59	0	14	2		0	0	0	0	0	2	1	0.965808	6	56	0	14	2								-5.738573	1	1	120060	4	38	1	0	1	1	1.995128	0	0.320000	1.790000	0.286913	0.580000	0.250000	1.000000	1.000000	0.610241	0.580000	0	3.900000e-01	8.200000e-01
SULF2	55959	broad.mit.edu	37	20	46295174	46295174	+	Silent	SNP	G	G	A	rs115495231	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr20:46295174G>A	ENST00000359930.4	-	12	2486	c.1635C>T	c.(1633-1635)gaC>gaT	p.D545D	SULF2_ENST00000361612.4_Silent_p.D545D|SULF2_ENST00000467815.1_Silent_p.D545D|SULF2_ENST00000484875.1_Silent_p.D545D	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2			54					ACACCCTGCCGTCCACCTCGA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000359930.4	1	0	hg19	CCDS13408.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	1	0	1	79	558	0	102	1	1	43	182	0	102	2		0	0	0	0	0	2	1	1.000000	78	548	0	102	2								-9.043663	1	1	121408	207	56	1	2	2	4	2.267356	1	0.320000	1.790000	0.381368	0.880000	0.690000	1.000000	1.000000	0.885041	0.880000	1	7.700000e-01	1
ZDBF2	57683	broad.mit.edu	37	2	207170979	207170979	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr2:207170979C>T	ENST00000374423.3	+	5	2113	c.1727C>T	c.(1726-1728)tCg>tTg	p.S576L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2			95					AACTATGGATCGAGTTGTTCT	0.438000																								0							SO:0001583	missense			ENST00000374423.3	0	1	hg19	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389908	0.82902	.	.	ENSG00000204186	ENST00000374423	T	0.45668	0.89	4.33	4.33	0.51752	.	0.000000	0.35805	N	0.002961	T	0.55529	0.1926	L	0.55481	1.735	0.09310	N	1	D	0.76494	0.999	D	0.64506	0.926	T	0.47262	-0.9131	10	0.72032	D	0.01	.	12.6441	0.56725	0.0:1.0:0.0:0.0	.	576	Q9HCK1	ZDBF2_HUMAN	L	576	ENSP00000363545:S576L	ENSP00000363545:S576L	S	+	2	0	ZDBF2	206879224	0.382000	0.25148	0.012000	0.15200	0.605000	0.37080	1.691000	0.37721	2.694000	0.91930	0.650000	0.86243	TCG		TCGA-HZ-A4BK-01A-11D-A26I-08	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	1	0	0	16	186	0	16	0	0	0	1	0	16	2		0	0	0	0	0	2	1	0.999940	16	184	0	16	2								-7.128712	1	1	120816	2	27	1	1	2	3	2.071067	0	0.320000	1.790000	0.321086	0.500000	0.300000	0.770000	0.490000	0.516214	0.500000	0	3.900000e-01	6.300000e-01
DYSF	8291	broad.mit.edu	37	2	71896785	71896785	+	Missense_Mutation	SNP	G	G	A	rs143939123		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr2:71896785G>A	ENST00000258104.3	+	50	5853	c.5576G>A	c.(5575-5577)cGt>cAt	p.R1859H	DYSF_ENST00000429174.2_Missense_Mutation_p.R1880H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1898H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.R1890H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1876H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1891H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1867H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1897H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1881H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1860H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1877H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	p.R1859H(1)		111					GTGCATTATCGTTCCCTGGGA	0.438000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000258104.3	1	1	hg19	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831448	0.91036	0.0	1.16E-4	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	4.87	4.87	0.63330	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.098372	0.64402	D	0.000003	D	0.95294	0.8473	M	0.84433	2.695	0.52099	D	0.999946	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.89917	0.999;0.999;0.999;0.996;0.996;1.0;1.0;1.0;0.977;0.999;0.973;0.614;0.996;0.996;0.999	D;P;D;P;P;D;D;D;P;D;P;B;P;P;D	0.72338	0.967;0.897;0.91;0.897;0.852;0.977;0.977;0.977;0.476;0.938;0.606;0.228;0.897;0.897;0.938	D	0.94569	0.7769	10	0.40728	T	0.16	-26.1585	15.8904	0.79293	0.0:0.0:1.0:0.0	.	623;1891;1898;1881;1846;1877;1867;1876;1866;1890;1897;1880;1845;1860;1859	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1890;1876;1897;1880;1859;1891;1860;1867;1881;1898;1877	ENSP00000407046:R1890H;ENSP00000387137:R1876H;ENSP00000386547:R1897H;ENSP00000398305:R1880H;ENSP00000258104:R1859H;ENSP00000386683:R1891H;ENSP00000377678:R1860H;ENSP00000386285:R1867H;ENSP00000386512:R1881H;ENSP00000386881:R1898H;ENSP00000386617:R1877H	ENSP00000258104:R1859H	R	+	2	0	DYSF	71750293	1.000000	0.71417	0.990000	0.47175	0.912000	0.54170	9.492000	0.97957	2.698000	0.92095	0.655000	0.94253	CGT		TCGA-HZ-A4BK-01A-11D-A26I-08	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	1	0	0	46	478	0	77	0	8.742329e-01	1	39	0	77	2		0	0	0	0	0	2	1	1.000000	46	473	0	76	2								-13.194030	1	1	121412	6	40	1	0	0	0	2.048971	0	0.320000	1.790000	0.311183	0.530000	0.400000	0.700000	0.540000	0.548989	0.530000	0	4.600000e-01	6.200000e-01
SEMA5B	54437	broad.mit.edu	37	3	122634365	122634365	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:122634365C>T	ENST00000357599.3	-	14	2296	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R637Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B			55					ATCACAGGATCGAGCTCGACA	0.607000																								0							SO:0001583	missense			ENST00000357599.3	1	1	hg19	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335933	0.95758	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.70307	0.3209	H	0.99074	4.42	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.84317	0.0514	10	0.87932	D	0	.	17.2003	0.86904	0.0:1.0:0.0:0.0	.	579;637;637	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	637;637;579;691;637	ENSP00000350215:R637Q;ENSP00000195173:R637Q;ENSP00000389588:R691Q;ENSP00000377208:R637Q	ENSP00000195173:R637Q	R	-	2	0	SEMA5B	124117055	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.596000	0.82721	2.520000	0.84964	0.561000	0.74099	CGA		TCGA-HZ-A4BK-01A-11D-A26I-08	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	1	0	0	22	253	0	45	0	0	0	1	0	45	2		0	0	0	0	0	2	1	0.999999	22	251	0	45	2								-20.000000	1	1	121412	2	33	1	1	2	3	2.132008	0	0.320000	1.790000	0.331761	0.520000	0.330000	1.000000	0.510000	0.566514	0.520000	0	4.200000e-01	6.800000e-01
GNL3	26354	broad.mit.edu	37	3	52726994	52726994	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:52726994G>T	ENST00000418458.1	+	10	1149	c.976G>T	c.(976-978)Gca>Tca	p.A326S	SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD69_ENST00000391150.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.A314S|GLT8D1_ENST00000463827.1_5'Flank	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)			12					GCGAAGTCCAGCAAGTATTGA	0.498000																								0							SO:0001583	missense			ENST00000418458.1	1	1	hg19	CCDS2861.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861848	0.51482	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.17528	2.27;2.27	5.91	3.9	0.45041	GTP-binding domain, HSR1-related (1);	0.620210	0.18874	N	0.128751	T	0.08670	0.0215	N	0.11201	0.11	0.36331	D	0.858845	B	0.15141	0.012	B	0.22152	0.038	T	0.11372	-1.0590	10	0.56958	D	0.05	.	4.4031	0.11397	0.3619:0.0:0.6381:0.0	.	326	Q9BVP2	GNL3_HUMAN	S	326;314	ENSP00000395772:A326S;ENSP00000378278:A314S	ENSP00000378278:A314S	A	+	1	0	GNL3	52702034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.643000	0.54374	1.505000	0.48720	0.650000	0.86243	GCA		TCGA-HZ-A4BK-01A-11D-A26I-08	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	1	0	1	40	359	0	54	1	9.975776e-01	15	69	0	54	2		0	0	0	0	0	2	1	1.000000	40	358	0	54	2								-20.000000	1	1	0	0		1	0	0	0	1.778713	1	0.320000	1.790000	0.208566	0.530000	0.390000	0.700000	0.530000	0.543844	0.530000	0	4.500000e-01	6.200000e-01
GNL3	26354	broad.mit.edu	37	3	52726995	52726995	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:52726995C>T	ENST00000418458.1	+	10	1150	c.977C>T	c.(976-978)gCa>gTa	p.A326V	SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD69_ENST00000391150.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.A314V|GLT8D1_ENST00000463827.1_5'Flank	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)			12					CGAAGTCCAGCAAGTATTGAA	0.498000																								0							SO:0001583	missense			ENST00000418458.1	1	1	hg19	CCDS2861.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644836	0.47258	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.14022	2.54;2.55	5.91	4.12	0.48240	GTP-binding domain, HSR1-related (1);	0.620210	0.18874	N	0.128751	T	0.03827	0.0108	N	0.01473	-0.845	0.37907	D	0.931235	B	0.02656	0.0	B	0.06405	0.002	T	0.26503	-1.0101	10	0.02654	T	1	.	8.4252	0.32725	0.0:0.7647:0.0:0.2353	.	326	Q9BVP2	GNL3_HUMAN	V	326;314	ENSP00000395772:A326V;ENSP00000378278:A314V	ENSP00000378278:A314V	A	+	2	0	GNL3	52702035	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.211000	0.32382	1.509000	0.48786	0.650000	0.86243	GCA		TCGA-HZ-A4BK-01A-11D-A26I-08	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	1	0	1	40	356	0	53	1	9.983339e-01	15	73	0	53	2		0	0	0	0	0	2	1	1.000000	40	355	0	53	2								-20.000000	1	1	0	0		1	0	0	0	1.778713	1	0.320000	1.790000	0.208566	0.530000	0.390000	0.700000	0.540000	0.547903	0.530000	0	4.600000e-01	6.300000e-01
MFAP3L	9848	broad.mit.edu	37	4	170926893	170926893	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr4:170926893C>T	ENST00000361618.3	-	2	443	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	MFAP3L_ENST00000393702.3_Missense_Mutation_p.V46M|MFAP3L_ENST00000393704.3_5'Flank|MFAP3L_ENST00000506110.1_Missense_Mutation_p.V46M	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like			22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)			ATTACGGGCACAGAGCCCAAG	0.458000																								0							SO:0001583	missense			ENST00000361618.3	1	1	hg19	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	C	4.276	0.050406	0.08243	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.96073	-1.78;-3.9;-3.9;-3.9;-3.9	5.18	1.49	0.22878	Immunoglobulin-like fold (1);	0.598203	0.18825	N	0.130155	D	0.91068	0.7189	L	0.43152	1.355	0.25324	N	0.989092	B	0.09022	0.002	B	0.08055	0.003	T	0.81221	-0.1031	10	0.32370	T	0.25	-0.0058	9.0328	0.36269	0.0:0.6194:0.0:0.3806	.	46	O75121	MFA3L_HUMAN	M	46	ENSP00000354583:V46M;ENSP00000377305:V46M;ENSP00000422571:V46M;ENSP00000425303:V46M;ENSP00000426247:V46M	ENSP00000354583:V46M	V	-	1	0	MFAP3L	171163468	0.074000	0.21230	0.741000	0.31004	0.040000	0.13550	0.703000	0.25646	0.292000	0.22492	-0.258000	0.10820	GTG		TCGA-HZ-A4BK-01A-11D-A26I-08	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	1	0	1	46	397	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1.000000	46	394	0	42	2								-20.000000	1	1	0	0		1	0	1	1	1.954322	0	0.320000	1.790000	0.260870	0.590000	0.440000	0.760000	0.600000	0.603426	0.590000	0	5.100000e-01	6.800000e-01
ZNF141	7700	broad.mit.edu	37	4	367212	367212	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr4:367212A>G	ENST00000240499.7	+	4	1135	c.986A>G	c.(985-987)cAt>cGt	p.H329R	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141			18					CTTACTAAACATAAGAGAATT	0.373000																								0							SO:0001583	missense			ENST00000240499.7	1	1	hg19	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.945443	0.73672	.	.	ENSG00000131127	ENST00000240499	D	0.86865	-2.18	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94938	0.8363	H	0.98199	4.17	0.29054	N	0.884313	D	0.89917	1.0	D	0.97110	1.0	D	0.87220	0.2253	8	.	.	.	.	6.1877	0.20506	1.0:0.0:0.0:0.0	.	329	Q15928	ZN141_HUMAN	R	329	ENSP00000240499:H329R	.	H	+	2	0	ZNF141	357212	0.991000	0.36638	0.777000	0.31699	0.982000	0.71751	6.242000	0.72376	0.495000	0.27882	0.260000	0.18958	CAT		TCGA-HZ-A4BK-01A-11D-A26I-08	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	1	0	1	40	358	0	43	0	8.621457e-02	0	5	0	43	2		0	0	0	0	0	2	1	1.000000	39	325	0	38	2								-20.000000	1	1	121394	2	33	1	0	1	1	1.958508	0	0.320000	1.790000	0.265976	0.570000	0.420000	0.760000	0.570000	0.589370	0.570000	0	4.900000e-01	6.700000e-01
PCDHB3	56132	broad.mit.edu	37	5	140482020	140482020	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:140482020C>T	ENST00000231130.2	+	1	1787	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3			72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GACGGCGACTCGGGCCAGAAC	0.716000																								0							SO:0001583	missense			ENST00000231130.2	1	1	hg19	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939596	0.73557	.	.	ENSG00000113205	ENST00000231130	T	0.49432	0.78	4.08	3.13	0.36017	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68339	0.2990	M	0.82630	2.6	0.33058	D	0.533707	D	0.76494	0.999	D	0.66084	0.941	T	0.79077	-0.1951	9	0.87932	D	0	.	13.9076	0.63845	0.0:0.8468:0.1532:0.0	.	596	Q9Y5E6	PCDB3_HUMAN	L	596	ENSP00000231130:S596L	ENSP00000231130:S596L	S	+	2	0	PCDHB3	140462204	0.005000	0.15991	0.999000	0.59377	0.998000	0.95712	2.101000	0.41787	1.993000	0.58246	0.556000	0.70494	TCG		TCGA-HZ-A4BK-01A-11D-A26I-08	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	0	0	0	42	529	0	124		0	0	0	0	124	2		0	0	0	0	0	2	1	0.996159	14	220	1	166	7								-9.916132	1	1	0	0		1	1	2	3	2.115615	0	0.320000	1.790000	0.328594	0.470000	0.340000	1.000000	0.460000	0.507214	0.470000	0	4.000000e-01	5.600000e-01
FAT2	2196	broad.mit.edu	37	5	150907687	150907687	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:150907687G>A	ENST00000261800.5	-	15	10046	c.10034C>T	c.(10033-10035)gCg>gTg	p.A3345V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		TTCATCAGTCGCTGATACCTG	0.532000																								0							SO:0001583	missense			ENST00000261800.5	1	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026947	0.93518	.	.	ENSG00000086570	ENST00000261800	T	0.59364	0.27	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.77824	0.4188	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78917	-0.2015	10	0.72032	D	0.01	.	19.9191	0.97079	0.0:0.0:1.0:0.0	.	3345;536	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	V	3345	ENSP00000261800:A3345V	ENSP00000261800:A3345V	A	-	2	0	FAT2	150887880	1.000000	0.71417	0.917000	0.36280	0.778000	0.44026	9.067000	0.93955	2.707000	0.92482	0.643000	0.83706	GCG		TCGA-HZ-A4BK-01A-11D-A26I-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	1	0	1	92	420	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	1.000000	91	414	0	87	2								-3.283273	1	1	0	0		1	1	2	3	2.115615	0	0.320000	1.790000	0.328594	0.990000	0.930000	1.000000	1.000000	0.996110	0.990000	1	9.900000e-01	1
FLT4	2324	broad.mit.edu	37	5	180039570	180039570	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:180039570G>A	ENST00000261937.6	-	26	3551	c.3473C>T	c.(3472-3474)gCg>gTg	p.A1158V	FLT4_ENST00000502649.1_Missense_Mutation_p.A1158V|FLT4_ENST00000393347.3_Missense_Mutation_p.A1158V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4			71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAGGTCTCGCCTTGGGGTC	0.642000													Colon(97;1075 1466 27033 27547 35871)											0							SO:0001583	missense			ENST00000261937.6	1	1	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	g	15.17	2.754723	0.49362	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	D;D;D	0.83075	-1.68;-1.68;-1.68	3.57	1.45	0.22620	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70701	0.3254	N	0.16862	0.45	0.33893	D	0.637638	B;B	0.32203	0.36;0.36	B;B	0.34824	0.19;0.19	T	0.74365	-0.3689	9	0.56958	D	0.05	.	10.3063	0.43683	0.0:0.0:0.301:0.699	.	1158;1158	E9PD35;P35916	.;VGFR3_HUMAN	V	1158	ENSP00000261937:A1158V;ENSP00000377016:A1158V;ENSP00000426057:A1158V	ENSP00000261937:A1158V	A	-	2	0	FLT4	179972176	0.999000	0.42202	0.974000	0.42286	0.708000	0.40852	2.991000	0.49409	0.774000	0.33427	0.457000	0.33378	GCG		TCGA-HZ-A4BK-01A-11D-A26I-08	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1	100	448	0	106	0	9.008794e-01	0	20	0	106	2	0	0	0	1	0	0	2	1	1.000000	100	442	0	105	2								-3.394788	1	1	0	0		1	1	2	3	2.115615	0	0.320000	1.790000	0.328594	0.990000	0.950000	1.000000	1.000000	0.997682	0.990000	1	9.900000e-01	1
TARS	6897	broad.mit.edu	37	5	33455699	33455699	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:33455699T>C	ENST00000265112.3	+	6	894	c.583T>C	c.(583-585)Tct>Cct	p.S195P	TARS_ENST00000414361.2_Missense_Mutation_p.S74P|TARS_ENST00000502553.1_Missense_Mutation_p.S195P|TARS_ENST00000541634.1_Missense_Mutation_p.S91P|TARS_ENST00000455217.2_Missense_Mutation_p.S228P	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase			29				L-Threonine(DB00156)	CAGGGGTGTGTCTAGCAATGA	0.348000																								0							SO:0001583	missense			ENST00000265112.3	1	1	hg19	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.139242	0.56936	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	5.45	5.45	0.79879	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	M	0.90145	3.09	0.80722	D	1	B;D;D;D	0.76494	0.058;0.999;0.993;0.999	B;D;D;D	0.68943	0.035;0.961;0.956;0.944	T	0.39881	-0.9592	10	0.62326	D	0.03	-26.5112	15.5522	0.76161	0.0:0.0:0.0:1.0	.	74;228;91;195	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	P	195;195;91;228;74	ENSP00000424387:S195P;ENSP00000265112:S195P;ENSP00000438469:S91P;ENSP00000387710:S228P;ENSP00000394291:S74P	ENSP00000265112:S195P	S	+	1	0	TARS	33491456	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	8.040000	0.89188	2.084000	0.62774	0.392000	0.25879	TCT		TCGA-HZ-A4BK-01A-11D-A26I-08	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	1	0	1	56	244	0	13	1	9.999815e-01	28	45	0	13	2		0	0	0	0	0	2	1	1.000000	55	243	0	13	2								-20.000000	1	1	0	0		1	0	1	1	1.959612	0	0.320000	1.790000	0.280880	0.990000	0.850000	1.000000	1.000000	0.985288	0.990000	1	9.600000e-01	1
ADAMTS12	81792	broad.mit.edu	37	5	33549440	33549440	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:33549440C>T	ENST00000504830.1	-	21	4509	c.4174G>A	c.(4174-4176)Gtg>Atg	p.V1392M	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1307M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12			216					CGGCTGTCCACGCACTGAATC	0.562000										HNSCC(64;0.19)														0							SO:0001583	missense			ENST00000504830.1	1	1	hg19	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033374	0.35893	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.62232	0.04;0.04	5.16	1.05	0.20165	.	0.339195	0.30483	N	0.009529	T	0.45377	0.1339	L	0.42529	1.33	0.80722	D	1	B;B	0.29716	0.255;0.194	B;B	0.22601	0.024;0.04	T	0.20472	-1.0274	10	0.51188	T	0.08	.	4.7832	0.13213	0.0:0.4534:0.2926:0.254	.	1307;1392	P58397-3;P58397	.;ATS12_HUMAN	M	1392;1307	ENSP00000422554:V1392M;ENSP00000344847:V1307M	ENSP00000344847:V1307M	V	-	1	0	ADAMTS12	33585197	0.799000	0.28903	0.986000	0.45419	0.987000	0.75469	-0.063000	0.11655	-0.105000	0.12132	-0.312000	0.09012	GTG		TCGA-HZ-A4BK-01A-11D-A26I-08	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	0	47	494	0	112	0	4.476366e-01	0	17	0	112	2		0	0	0	0	0	2	1	1.000000	50	489	0	110	2								-13.145400	1	1	121412	1	31	1	0	1	1	1.959612	0	0.320000	1.790000	0.280880	0.510000	0.380000	0.660000	0.510000	0.519964	0.510000	0	4.400000e-01	5.900000e-01
PACSIN1	29993	broad.mit.edu	37	6	34498289	34498289	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr6:34498289A>C	ENST00000538621.1	+	8	1207	c.962A>C	c.(961-963)aAg>aCg	p.K321T	PACSIN1_ENST00000244458.2_Missense_Mutation_p.K321T|PACSIN1_ENST00000374043.2_Missense_Mutation_p.K279T	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1			13					AAACAGCCTAAGAAGGCAGAG	0.632000																								0							SO:0001583	missense			ENST00000538621.1	1	1	hg19	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635770	0.47049	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.24538	1.85;1.85;1.85	4.43	4.43	0.53597	.	0.208574	0.48286	D	0.000188	T	0.25717	0.0626	M	0.72118	2.19	0.58432	D	0.999999	D	0.63880	0.993	P	0.53266	0.722	T	0.05835	-1.0861	10	0.18710	T	0.47	-17.1727	13.5105	0.61508	1.0:0.0:0.0:0.0	.	321	Q9BY11	PACN1_HUMAN	T	321;279;321;321	ENSP00000244458:K321T;ENSP00000363155:K279T;ENSP00000439639:K321T	ENSP00000244458:K321T	K	+	2	0	PACSIN1	34606267	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.935000	0.56560	1.875000	0.54330	0.374000	0.22700	AAG		TCGA-HZ-A4BK-01A-11D-A26I-08	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1	1	0	0	8	115	0	27	0	5.714286e-03	0	2	0	27	2		0	0	0	0	0	2	1	0.989806	8	114	0	27	2								-12.463340	1	1	0	0		1	0	0	0	1.781395	1	0.320000	1.790000	0.208566	0.350000	0.170000	0.620000	0.340000	0.374805	0.350000	0	2.500000e-01	4.900000e-01
ASB15	142685	broad.mit.edu	37	7	123254593	123254593	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:123254593A>G	ENST00000451558.1	+	6	558	c.37A>G	c.(37-39)Aca>Gca	p.T13A	RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.T13A|ASB15_ENST00000451215.1_Missense_Mutation_p.T13A|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.T13A|ASB15_ENST00000540573.1_Missense_Mutation_p.T13A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15			12					AGACCATCTTACAAGTTATGA	0.363000																								0							SO:0001583	missense			ENST00000451558.1	1	1	hg19	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.373191	0.42105	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000437535;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	T;T;T;T;T;T;T	0.68903	-0.3;-0.3;0.83;-0.3;-0.3;-0.36;-0.3	6.04	1.13	0.20643	.	0.270670	0.31221	N	0.008021	T	0.42899	0.1223	N	0.24115	0.695	0.28159	N	0.929077	B	0.09022	0.002	B	0.06405	0.002	T	0.32534	-0.9903	10	0.02654	T	1	-39.6481	9.3766	0.38286	0.7265:0.0:0.2735:0.0	.	13	Q8WXK1	ASB15_HUMAN	A	13	ENSP00000397655:T13A;ENSP00000390963:T13A;ENSP00000406163:T13A;ENSP00000416433:T13A;ENSP00000438643:T13A;ENSP00000401166:T13A;ENSP00000275699:T13A	ENSP00000275699:T13A	T	+	1	0	ASB15	123041829	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	2.916000	0.48813	-0.029000	0.13827	0.460000	0.39030	ACA		TCGA-HZ-A4BK-01A-11D-A26I-08	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	1	0	0	83	868	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1.000000	83	859	0	133	2								-20.000000	1	1	0	0		1	0	1	1	1.949217	0	0.320000	1.790000	0.269759	0.500000	0.400000	0.610000	0.500000	0.511531	0.500000	0	4.500000e-01	5.600000e-01
REPIN1	29803	broad.mit.edu	37	7	150069256	150069256	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:150069256C>G	ENST00000425389.2	+	1	1004	c.926C>G	c.(925-927)tCt>tGt	p.S309C	REPIN1_ENST00000397281.2_Missense_Mutation_p.S309C|REPIN1_ENST00000489432.2_Missense_Mutation_p.S366C|REPIN1_ENST00000444957.1_Missense_Mutation_p.S309C|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.S309C|REPIN1_ENST00000479668.1_3'UTR	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1			14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)		AACCTGCTGTCTCACAGCAAG	0.701000																								0							SO:0001583	missense			ENST00000425389.2	0	1	hg19	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450922	0.43531	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000488943;ENST00000425389	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	4.91	4.91	0.64330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55049	0.1896	N	0.08118	0	0.22354	N	0.99917	P;D	0.76494	0.553;0.999	B;D	0.69142	0.062;0.962	T	0.49062	-0.8978	9	0.52906	T	0.07	-6.4308	10.6565	0.45678	0.1909:0.8091:0.0:0.0	.	366;309	C9J3L7;Q9BWE0	.;REPI1_HUMAN	C	309;309;309;366;369;309	ENSP00000445016:S309C;ENSP00000380451:S309C;ENSP00000407714:S309C;ENSP00000417291:S366C;ENSP00000419872:S369C;ENSP00000388287:S309C	ENSP00000380451:S309C	S	+	2	0	REPIN1	149700189	0.000000	0.05858	0.995000	0.50966	0.986000	0.74619	-0.090000	0.11163	2.550000	0.86006	0.462000	0.41574	TCT		TCGA-HZ-A4BK-01A-11D-A26I-08	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	0	0	0	11	72	0	19	1	9.827401e-01	5	44	0	19	2		0	0	0	0	0	2	1	0.998720	11	72	0	19	2								-19.242480	1	1	0	0		1	0	1	1	1.995005	0	0.320000	1.790000	0.284512	0.790000	0.430000	1.000000	1.000000	0.787109	0.790000	0	5.900000e-01	1
POM121L12	285877	broad.mit.edu	37	7	53103801	53103801	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:53103801G>A	ENST00000408890.4	+	1	453	c.437G>A	c.(436-438)cGt>cAt	p.R146H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	p.R146H(1)		61					CCCCCTGAGCGTCAGGAGAGC	0.711000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000408890.4	1	1	hg19	CCDS43584.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.394	0.440778	0.12104	.	.	ENSG00000221900	ENST00000408890	T	0.24723	1.84	1.37	-1.98	0.07480	.	.	.	.	.	T	0.17408	0.0418	L	0.43923	1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26815	-1.0092	9	0.30078	T	0.28	.	5.2756	0.15647	0.5589:0.0:0.4411:0.0	.	146	Q8N7R1	P1L12_HUMAN	H	146	ENSP00000386133:R146H	ENSP00000386133:R146H	R	+	2	0	POM121L12	53071295	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.211000	0.02997	-0.736000	0.04831	-2.126000	0.00345	CGT		TCGA-HZ-A4BK-01A-11D-A26I-08	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	1	0	0	32	180	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1.000000	32	178	0	30	2								-20.000000	1	1	120650	5	32	1	0	1	1	1.949217	0	0.320000	1.790000	0.269759	0.870000	0.620000	1.000000	1.000000	0.867961	0.870000	1	7.300000e-01	1
CSMD3	114788	broad.mit.edu	37	8	113697836	113697836	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:113697836G>A	ENST00000297405.5	-	15	2525	c.2281C>T	c.(2281-2283)Ctt>Ttt	p.L761F	CSMD3_ENST00000352409.3_Missense_Mutation_p.L761F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L657F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L721F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	p.L721V(2)|p.L761V(2)		646					TTGAAAGAAAGATGTATCCGG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														4	Substitution - Missense(4)						SO:0001583	missense			ENST00000297405.5	1	1	hg19	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921663	0.73213	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.96	5.09	0.68999	CUB (5);	0.000000	0.64402	D	0.000009	T	0.64670	0.2619	M	0.86420	2.815	0.34498	D	0.705682	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.77381	-0.2609	10	0.40728	T	0.16	.	15.1353	0.72558	0.0675:0.0:0.9325:0.0	.	657;761;721	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	721;761;101;657;761	ENSP00000345799:L721F;ENSP00000297405:L761F;ENSP00000341558:L101F;ENSP00000412263:L657F;ENSP00000343124:L761F	ENSP00000297405:L761F	L	-	1	0	CSMD3	113767012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.552000	0.73914	1.535000	0.49220	0.655000	0.94253	CTT		TCGA-HZ-A4BK-01A-11D-A26I-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	0	42	517	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1.000000	41	515	0	73	2								-10.475410	1	1	0	0		1	0	1	1	1.950419	0	0.320000	1.790000	0.273504	0.430000	0.320000	0.570000	0.440000	0.446266	0.430000	0	3.700000e-01	5.100000e-01
SLCO5A1	81796	broad.mit.edu	37	8	70617453	70617453	+	Missense_Mutation	SNP	C	C	T	rs141622109		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:70617453C>T	ENST00000260126.4	-	6	2141	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V479I|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V424I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1			53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		GCACTGGGGACGATAATAACC	0.413000																								0							SO:0001583	missense			ENST00000260126.4	1	1	hg19	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265449	0.40095	0.0	1.16E-4	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.39787	1.06;1.06;1.06	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	N	0.17474	0.49	0.44221	D	0.997051	D;D;P;P	0.89917	1.0;0.961;0.798;0.871	D;P;B;B	0.83275	0.996;0.621;0.261;0.144	T	0.16689	-1.0394	10	0.05436	T	0.98	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	424;424;479;479	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	I	479;479;424	ENSP00000260126:V479I;ENSP00000434422:V479I;ENSP00000431611:V424I	ENSP00000260126:V479I	V	-	1	0	SLCO5A1	70780007	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.748000	0.85085	2.768000	0.95171	0.655000	0.94253	GTC		TCGA-HZ-A4BK-01A-11D-A26I-08	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	1	0	1	35	253	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1.000000	35	251	0	34	2								-20.000000	1	1	121412	2	34	1	0	1	1	1.950419	0	0.320000	1.790000	0.273504	0.700000	0.500000	0.930000	0.710000	0.719057	0.700000	0	6.000000e-01	8.300000e-01
KCNB2	9312	broad.mit.edu	37	8	73480175	73480175	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:73480175C>A	ENST00000523207.1	+	2	794	c.206C>A	c.(205-207)aCa>aAa	p.T69K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2			85	Breast(64;0.137)		Epithelial(68;0.105)	Dalfampridine(DB06637)	GACTGCAACACACACGAGAGC	0.522000																								0							SO:0001583	missense			ENST00000523207.1	1	1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562910	0.86335	.	.	ENSG00000182674	ENST00000523207	D	0.97041	-4.22	5.71	3.79	0.43588	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.470461	0.15701	U	0.248917	D	0.97235	0.9096	L	0.43598	1.365	0.47905	D	0.999541	P	0.47677	0.899	P	0.60012	0.867	D	0.97404	0.9998	10	0.87932	D	0	.	15.8203	0.78633	0.0:0.7433:0.2567:0.0	.	69	Q92953	KCNB2_HUMAN	K	69	ENSP00000430846:T69K	ENSP00000430846:T69K	T	+	2	0	KCNB2	73642729	0.998000	0.40836	0.971000	0.41717	0.997000	0.91878	3.977000	0.56874	1.404000	0.46819	0.655000	0.94253	ACA		TCGA-HZ-A4BK-01A-11D-A26I-08	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	0	45	438	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1.000000	44	433	0	78	2								-20.000000	1	1	0	0		1	0	1	1	1.950419	0	0.320000	1.790000	0.273504	0.540000	0.400000	0.700000	0.540000	0.551796	0.540000	0	4.600000e-01	6.300000e-01
SVEP1	79987	broad.mit.edu	37	9	113261346	113261346	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:113261346G>A	ENST00000401783.2	-	7	1992	c.1656C>T	c.(1654-1656)gtC>gtT	p.V552V	SVEP1_ENST00000302728.8_Silent_p.V552V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.V529V|SVEP1_ENST00000374461.1_Silent_p.V529V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					CCTGAACTCCGACATTCCATT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000401783.2	0	1	hg19	CCDS48004.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	17	154	0	24	0	0	0	1	0	24	2		0	0	0	0	0	2	1	0.999969	17	151	0	24	2								-3.142743	1	1	120904	13	40	1	0	1	1	1.903436	0	0.320000	1.790000	0.255692	0.560000	0.340000	0.840000	0.550000	0.583911	0.560000	0	4.400000e-01	7.100000e-01
FRMPD1	22844	broad.mit.edu	37	9	37746200	37746200	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:37746200G>A	ENST00000539465.1	+	16	4764	c.4171G>A	c.(4171-4173)Gca>Aca	p.A1391T	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	p.A1391T(1)		93					CTGCACCACCGCACCCCTGTC	0.662000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000539465.1	1	1	hg19	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	1.279	-0.610757	0.03690	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06608	3.28;3.28	5.3	4.39	0.52855	.	1.000500	0.08067	N	0.999257	T	0.03305	0.0096	N	0.08118	0	0.19575	N	0.999967	B	0.27679	0.185	B	0.17722	0.019	T	0.35375	-0.9791	10	0.17832	T	0.49	-1.3239	6.7298	0.23377	0.0936:0.1812:0.7251:0.0	.	1391	Q5SYB0	FRPD1_HUMAN	T	1391	ENSP00000366995:A1391T;ENSP00000444411:A1391T	ENSP00000366995:A1391T	A	+	1	0	FRMPD1	37736200	0.008000	0.16893	0.010000	0.14722	0.003000	0.03518	1.688000	0.37690	2.475000	0.83589	0.655000	0.94253	GCA		TCGA-HZ-A4BK-01A-11D-A26I-08	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	0	0	0	20	355	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	0.999995	20	350	0	66	2								-2.967652	1	1	121398	2	34	1	0	1	1	1.903436	0	0.320000	1.790000	0.255692	0.300000	0.190000	0.450000	0.300000	0.315602	0.300000	0	2.400000e-01	3.800000e-01
FGD3	89846	broad.mit.edu	37	9	95773521	95773521	+	Silent	SNP	C	C	T	rs140324424	by1000genomes	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:95773521C>T	ENST00000375482.3	+	8	1498	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	FGD3_ENST00000416701.2_Silent_p.A334A|FGD3_ENST00000337352.6_Silent_p.A334A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	p.A334A(2)		17					TCTCCACAGCCGCCAACCACT	0.632000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000375482.3	1	1	hg19	CCDS43849.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	1	0	0	29	445	0	86	0	7.386623e-01	0	42	0	86	2		0	0	0	0	0	2	1	1.000000	28	441	0	85	2								-2.879450	1	1	121078	29	47	1	0	1	1	1.903436	0	0.320000	1.790000	0.255692	0.340000	0.230000	0.480000	0.350000	0.357669	0.340000	0	2.800000e-01	4.200000e-01
ZIC3	7547	broad.mit.edu	37	X	136649486	136649486	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:136649486C>T	ENST00000287538.5	+	1	1186	c.636C>T	c.(634-636)gcC>gcT	p.A212A	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Silent_p.A212A	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3			37	Acute lymphoblastic leukemia(192;0.000127)				CCTACGCGGCCGGCGCTCAGT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000287538.5	1	1	hg19	CCDS14663.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1	1	0	0	22	200	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.999999	22	199	0	36	2								-3.221898	1	1	0	0		1	0	1	1			0.320000	1.790000	0.320000	0.300000	0.200000	0.440000	0.310000	0.317809	0.300000	0	2.500000e-01	3.800000e-01
GPM6B	2824	broad.mit.edu	37	X	13803924	13803924	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:13803924C>T	ENST00000356942.5	-	2	506	c.65G>A	c.(64-66)tGc>tAc	p.C22Y	GPM6B_ENST00000454189.2_Missense_Mutation_p.C3Y|GPM6B_ENST00000493677.1_Missense_Mutation_p.C36Y|GPM6B_ENST00000398361.3_5'UTR|GPM6B_ENST00000355135.2_Missense_Mutation_p.C62Y|GPM6B_ENST00000316715.4_Missense_Mutation_p.C62Y	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B			6					GCATTCAAAGCAGCCTGAACC	0.527000																								0							SO:0001583	missense			ENST00000356942.5	1	1	hg19	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434116	0.83776	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000475307	D;D;D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62;-5.62;-5.62	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.98897	1.0775	10	0.87932	D	0	-0.0619	18.8027	0.92025	0.0:1.0:0.0:0.0	.	36;3;22;62;14;62	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	Y	62;3;36;62;22;22	ENSP00000316861:C62Y;ENSP00000389915:C3Y;ENSP00000419904:C36Y;ENSP00000347258:C62Y;ENSP00000349420:C22Y;ENSP00000418594:C22Y	ENSP00000316861:C62Y	C	-	2	0	GPM6B	13713845	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.350000	0.79385	2.387000	0.81309	0.600000	0.82982	TGC		TCGA-HZ-A4BK-01A-11D-A26I-08	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	1	0	0	19	133	0	30	0	1.759531e-02	0	2	0	30	2		0	0	0	0	0	2	1	0.999992	19	130	0	30	2								-20.000000	1	1	0	0		1	0	1	1			0.320000	1.790000	0.320000	0.380000	0.240000	0.560000	0.390000	0.400205	0.380000	0	3.100000e-01	4.800000e-01
SRPK3	26576	broad.mit.edu	37	X	153048258	153048258	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:153048258C>T	ENST00000370101.3	+	6	553	c.507C>T	c.(505-507)caC>caT	p.H169H	SRPK3_ENST00000370104.1_Silent_p.H169H|SRPK3_ENST00000370108.3_Silent_p.H169H|SRPK3_ENST00000393786.3_Silent_p.H169H|SRPK3_ENST00000489426.1_Silent_p.H236H|SRPK3_ENST00000370100.1_Silent_p.H127H	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3			13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				TGCTGGGCCACCAGCTCCTCA	0.652000													Esophageal Squamous(167;766 3400 32156)											0							SO:0001819	synonymous_variant			ENST00000370101.3	0	1	hg19	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	C	4.748	0.139064	0.09083	.	.	ENSG00000184343	ENST00000430541	.	.	.	5.77	0.999	0.19862	.	.	.	.	.	T	0.55752	0.1940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46233	-0.9206	4	.	.	.	-36.8803	8.7166	0.34414	0.0:0.4138:0.0:0.5862	.	.	.	.	I	183	.	.	T	+	2	0	SRPK3	152701452	0.863000	0.29885	0.998000	0.56505	0.360000	0.29518	-0.028000	0.12350	0.040000	0.15660	-0.192000	0.12808	ACC		TCGA-HZ-A4BK-01A-11D-A26I-08	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	1	0	1	19	116	0	18	0	2.221517e-02	0	2	0	18	2		0	0	0	0	0	2	1	0.999994	19	115	0	18	2								-20.000000	1	1	0	0		1	0	1	1			0.320000	1.790000	0.320000	0.430000	0.270000	0.630000	0.430000	0.449075	0.430000	0	3.500000e-01	5.400000e-01
DHRSX	207063	broad.mit.edu	37	X	2161133	2161133	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:2161133C>T	ENST00000334651.5	-	6	787	c.735G>A	c.(733-735)acG>acA	p.T245T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked			16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)			TGTAGACGTCCGTGTTGACCA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000334651.5	1	1	hg19	CCDS35195.1																																																																																				TCGA-HZ-A4BK-01A-11D-A26I-08	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	1	0	1	22	309	0	81	1	9.987984e-01	21	130	0	81	2		0	0	0	0	0	2	1	0.999999	22	301	0	80	2								-2.578491	1	1	0	0		1	0	1	1			0.320000	1.790000	0.320000	0.200000	0.130000	0.300000	0.210000	0.214454	0.200000	0	1.600000e-01	2.600000e-01
STS	412	broad.mit.edu	37	X	7223159	7223159	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:7223159G>A	ENST00000217961.4	+	7	1251	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S			27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)		Norelgestromin(DB06713)	TCGGACCAGGGAGCACATGTA	0.458000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000217961.4	1	1	hg19	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167811	0.38315	.	.	ENSG00000101846	ENST00000217961	D	0.99811	-6.87	3.7	3.7	0.42460	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	H	0.99825	4.815	0.43107	D	0.994805	D	0.89917	1.0	D	0.97110	1.0	D	0.96487	0.9361	10	0.87932	D	0	.	10.6511	0.45649	0.0:0.0:1.0:0.0	.	344	P08842	STS_HUMAN	E	344	ENSP00000217961:G344E	ENSP00000217961:G344E	G	+	2	0	STS	7233159	1.000000	0.71417	0.030000	0.17652	0.085000	0.17905	5.739000	0.68622	1.615000	0.50252	0.600000	0.82982	GGA		TCGA-HZ-A4BK-01A-11D-A26I-08	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	1	0	0	27	273	0	30	0	5.017237e-01	1	17	0	30	2		0	0	0	0	0	2	1	1.000000	27	272	0	30	2								-9.894793	1	1	0	0		1	0	1	1			0.320000	1.790000	0.320000	0.270000	0.180000	0.390000	0.280000	0.287685	0.270000	0	2.300000e-01	3.400000e-01
