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
DIP2C	22982	broad.mit.edu	37	10	395301	395301	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr10:395301C>T	ENST00000280886.6	-	25	3166	c.3079G>A	c.(3079-3081)Ggc>Agc	p.G1027S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)			81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)		ACGTGGTCGCCGTCCTGAAGG	0.652000																								0							SO:0001583	missense			ENST00000280886.6	0	1	hg19	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	24.200000	4.501679	0.851760	.	.	ENSG00000151240	ENST00000280886	T	0.19532	2.14	5.180000	5.180000	0.714440	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.83774	2.66	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	T	0.59606	-0.7423	10	0.87932	D	0	-23.0966	18.710900	0.916560	0.0:1.0:0.0:0.0	.	1027	Q9Y2E4	DIP2C_HUMAN	S	1027	ENSP00000280886:G1027S	ENSP00000280886:G1027S	G	-	1	0	DIP2C	385301	1	0.714170	4.210000e-01	0.266090	0.302000	0.276580	7.811000	0.860920	2.409000	0.818220	0.563000	0.778840	GGC		TCGA-FB-A4P5-01A-11D-A26I-08	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	0	0	0	5	175	0	40	0	1.155322e-02	0	5	0	40	2		0	0	0	0	0	2	1	0.938422	5	175	0	40	2		0	0	0	0	40	2	-6.941940	1	0	121398	1	30	1	1	2	3	2.004724	0	0.130000	2	0.135060	0.480000	0.180000	1.000000	0.400000	0.527398	0.480000	0	0.300000	0.760000
TCN1	6947	broad.mit.edu	37	11	59629067	59629067	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:59629067G>A	ENST00000257264.3	-	4	593	c.489C>T	c.(487-489)acC>acT	p.T163T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)			29		all_epithelial(135;0.198)		Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAACTTCGGCGGTTGAGTAGT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000257264.3	0	1	hg19	CCDS7978.1																																																																																				TCGA-FB-A4P5-01A-11D-A26I-08	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	0	0	0	12	577	0	72	1	6.595281e-01	14	93	0	72	2		0	0	0	0	0	2	1	0.999099	12	574	0	69	2		0	0	0	0	72	2	-2.406236	0	1	121412	58	51	1	1	2	3	2.009813	0	0.130000	2	0.136176	0.330000	0.170000	1.000000	0.310000	0.396079	0.330000	0	0.240000	0.480000
CCDC87	55231	broad.mit.edu	37	11	66360267	66360267	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:66360267C>T	ENST00000333861.3	-	1	287	c.220G>A	c.(220-222)Gga>Aga	p.G74R	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87			28					GGAGGCACTCCCGCTGCTATC	0.657000											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000333861.3	1	1	hg19	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	4.935000	0.173708	0.093910	.	.	ENSG00000182791	ENST00000333861	T	0.27890	1.64	5.390000	2.330000	0.289320	.	1.311630	0.05373	N	0.535892	T	0.08492	0.0211	N	0.00237	-1.79	0.093100	N	1.000000	B	0.02656	0.0	B	0.01281	0.0	T	0.26950	-1.0088	10	0.11485	T	0.65	-0.9844	8.499300	0.331480	0.0872:0.4903:0.4226:0.0	.	74	Q9NVE4	CCD87_HUMAN	R	74	ENSP00000328487:G74R	ENSP00000328487:G74R	G	-	1	0	CCDC87	66116843	4.000000e-03	0.155600	0	0.037020	0.003000	0.035180	1.494000	0.356160	0.405000	0.255320	-0.120000	0.150300	GGA		TCGA-FB-A4P5-01A-11D-A26I-08	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	1	0	0	9	234	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	0.994143	9	231	0	48	2		0	0	0	0	48	2	-3.319084	1	1	0	0		1	1	2	3	2.009813	0	0.130000	2	0.136176	0.610000	0.290000	1.000000	1.000000	0.646764	0.610000	0	0.430000	0.900000
LRP5	4041	broad.mit.edu	37	11	68115353	68115353	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:68115353C>T	ENST00000294304.7	+	2	236	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5			63					CCGGGACGTACGGCTGGTGGA	0.647000																								0							SO:0001583	missense			ENST00000294304.7	1	1	hg19	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	13.790000	2.342253	0.414980	0.0	1.19E-4	ENSG00000162337	ENST00000294304	D	0.91792	-2.91	4.230000	2.220000	0.280830	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.38436	U	0.001695	D	0.96513	0.8862	H	0.95079	3.62	0.494830	D	0.999798	D	0.89917	1.0	D	0.97110	1.0	D	0.95702	0.8750	10	0.87932	D	0	.	8.593600	0.337010	0.2119:0.7033:0.0:0.0848	.	44	O75197	LRP5_HUMAN	W	44	ENSP00000294304:R44W	ENSP00000294304:R44W	R	+	1	2	LRP5	67871929	9.480000e-01	0.322510	9.640000e-01	0.405700	0.037000	0.131400	2.186000	0.425930	1.148000	0.423850	-0.215000	0.126440	CGG		TCGA-FB-A4P5-01A-11D-A26I-08	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	0	0	0	13	390	0	76	0	4.665106e-02	0	10	0	76	2		0	0	0	0	0	2	1	0.999461	12	380	0	75	2		0	0	0	0	76	2	-3.703704	1	1	121000	1	27	1	1	2	3	2.009813	0	0.130000	2	0.136176	0.520000	0.280000	1.000000	0.490000	0.569099	0.520000	0	0.390000	0.730000
CCDC60	160777	broad.mit.edu	37	12	119773039	119773039	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:119773039C>T	ENST00000327554.2	+	1	523	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.R20W|CCDC60_ENST00000536742.1_Missense_Mutation_p.R20W	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60			40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				GGGGGCTGTCCGGCCCTTTTA	0.502000																								0							SO:0001583	missense			ENST00000327554.2	1	1	hg19	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	6.197000	0.404573	0.117540	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	T;T;T	0.48836	0.8;1.83;0.95	4.420000	-3.660000	0.044890	.	1.591660	0.03532	N	0.222527	T	0.17492	0.0420	N	0.01874	-0.695	0.093100	N	1.000000	B	0.02656	0.0	B	0.01281	0.0	T	0.09773	-1.0659	9	.	.	.	0.016	3.287800	0.069370	0.3849:0.3158:0.0:0.2993	.	20	Q8IWA6	CCD60_HUMAN	W	20	ENSP00000445505:R20W;ENSP00000333374:R20W;ENSP00000443403:R20W	.	R	+	1	2	CCDC60	118257422	0	0.058580	1.000000e-03	0.086480	0.056000	0.154070	-0.894000	0.041230	-0.330000	0.085140	-0.377000	0.069320	CGG		TCGA-FB-A4P5-01A-11D-A26I-08	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	0	0	0	12	359	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	0.999014	11	351	0	61	2		0	0	0	0	61	2	-2.748327	1	1	121410	4	38	1	1	2	3	2.001364	0	0.130000	2	0.134501	0.520000	0.280000	1.000000	0.490000	0.559715	0.520000	0	0.380000	0.720000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	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			hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.400000	4.409094	0.833400	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.807220	D	1.000000	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	.	18.371900	0.904090	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	0.714170	1	0.803570	0.998000	0.957120	7.743000	0.850200	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-FB-A4P5-01A-11D-A26I-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1		0		2	91	0	15	0	7.364601e-03	1	3	0	15	2	1	9.683217e-01	7	341	0	180	2	1	0.681391	2	90	0	15	2	1	9.999940e-01	353	7668	0	15	2	-3.568862	1	1	121404	2	44	1	1	2	3	2.009941	0	0.130000	2	0.136176	0.430000	0.090000	1.000000	1.000000	0.498729	0.430000	0	0.210000	0.850000
FREM2	341640	broad.mit.edu	37	13	39357268	39357268	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr13:39357268C>A	ENST00000280481.7	+	5	5919	c.5703C>A	c.(5701-5703)ttC>ttA	p.F1901L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			GTGAGCTGTTCATTCCCATCA	0.448000																								0							SO:0001583	missense			ENST00000280481.7	0	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	0.016000	-1.513669	0.009750	.	.	ENSG00000150893	ENST00000280481	T	0.28454	1.61	5.840000	3.090000	0.356070	Na-Ca exchanger/integrin-beta4 (2);	0.154739	0.64402	N	0.000015	T	0.09555	0.0235	N	0.03177	-0.4	0.410290	D	0.985147	B	0.02656	0.0	B	0.09377	0.004	T	0.22487	-1.0215	10	0.05620	T	0.96	.	4.307300	0.109530	0.1488:0.4504:0.0:0.4008	.	1901	Q5SZK8	FREM2_HUMAN	L	1901	ENSP00000280481:F1901L	ENSP00000280481:F1901L	F	+	3	2	FREM2	38255268	4.160000e-01	0.254240	8.260000e-01	0.328280	0.043000	0.139390	-0.373000	0.074940	0.334000	0.235900	0.514000	0.502590	TTC		TCGA-FB-A4P5-01A-11D-A26I-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	0	0	0	17	597	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	0.999963	17	593	0	64	2		0	0	0	0	64	2	-2.882516	1	1	0	0		1	1	2	3	2.007468	0	0.130000	2	0.135618	0.440000	0.260000	1.000000	0.420000	0.492457	0.440000	0	0.340000	0.600000
DGKH	160851	broad.mit.edu	37	13	42774011	42774011	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr13:42774011C>T	ENST00000337343.4	+	20	2480	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L	DGKH_ENST00000540693.1_Missense_Mutation_p.S820L|DGKH_ENST00000261491.5_Missense_Mutation_p.S820L|DGKH_ENST00000379274.2_Missense_Mutation_p.S684L|DGKH_ENST00000536612.1_Missense_Mutation_p.S684L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.S575L	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta			43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)			TTACAGAGATCGTACAAGAAT	0.333000																								0							SO:0001583	missense			ENST00000337343.4	0	1	hg19	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	21.700000	4.184618	0.786770	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.690000	5.690000	0.884480	Diacylglycerol kinase, accessory domain (2);	0.059562	0.64402	D	0.000004	T	0.49304	0.1549	M	0.75615	2.305	0.584320	D	0.999998	P;P;P;P	0.46952	0.874;0.644;0.887;0.824	B;B;B;B	0.40375	0.3;0.22;0.22;0.327	T	0.58869	-0.7560	10	0.87932	D	0	.	19.801300	0.965090	0.0:1.0:0.0:0.0	.	575;684;820;820	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	L	820;820;820;684;684;575	ENSP00000440823:S820L;ENSP00000337572:S820L;ENSP00000261491:S820L;ENSP00000368576:S684L;ENSP00000445114:S684L;ENSP00000441308:S575L	ENSP00000261491:S820L	S	+	2	0	DGKH	41672011	1	0.714170	9.630000e-01	0.404240	0.825000	0.466860	7.818000	0.864160	2.670000	0.908740	0.591000	0.815410	TCG		TCGA-FB-A4P5-01A-11D-A26I-08	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	0	0	0	6	161	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	0.964522	6	159	0	14	2		0	0	0	0	14	2	-2.787793	1	1	0	0		1	1	2	3	2.007468	0	0.130000	2	0.135618	0.610000	0.250000	1.000000	1.000000	0.640236	0.610000	0	0.400000	0.940000
SPSB3	90864	broad.mit.edu	37	16	1828584	1828584	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr16:1828584G>A	ENST00000566339.1	-	3	486	c.156C>T	c.(154-156)taC>taT	p.Y52Y	SPSB3_ENST00000301717.4_Silent_p.Y52Y	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3			10					GCAGCGTGGAGTACTCGGGGT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000566339.1	1	1	hg19	CCDS32365.1																																																																																				TCGA-FB-A4P5-01A-11D-A26I-08	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	0	0	0	12	344	0	115	1	8.226456e-01	5	88	0	115	2		0	0	0	0	0	2	1	0.999093	12	340	0	115	2		0	0	0	0	115	2	-12.158340	1	1	0	0		1	1	2	3	2.019557	0	0.130000	2	0.138401	0.560000	0.290000	1.000000	0.520000	0.606832	0.560000	0	0.410000	0.830000
CACNB1	782	broad.mit.edu	37	17	37339981	37339981	+	Silent	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:37339981C>T	ENST00000394303.3	-	11	1242	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	CACNB1_ENST00000344140.5_Silent_p.K390K|CACNB1_ENST00000582877.1_5'Flank|CACNB1_ENST00000394310.3_Silent_p.K345K	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	p.K390N(1)		16				Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGAGGTGATCTTGATGTAAA	0.567000													Esophageal Squamous(5;100 366 38393 41452 45827)											1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000394303.3	0	1	hg19	CCDS42311.1																																																																																				TCGA-FB-A4P5-01A-11D-A26I-08	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3	0	0	0	4	66	0	11	1	1.819839e-01	3	8	0	11	2		0	0	0	0	0	2	1	0.885455	4	64	0	11	2		0	0	0	0	11	2	-8.518474	1	1	0	0		1	0	1	1	1.989980	0	0.130000	2	0.123735	0.880000	0.310000	1.000000	1.000000	0.813457	0.880000	1	0.550000	1.000000
CA10	56934	broad.mit.edu	37	17	50008436	50008436	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:50008436G>A	ENST00000285273.4	-	4	1304	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	CA10_ENST00000442502.2_Missense_Mutation_p.R65W|CA10_ENST00000570565.1_De_novo_Start_OutOfFrame|CA10_ENST00000451037.2_Missense_Mutation_p.R65W|CA10_ENST00000340813.6_Missense_Mutation_p.R71W	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X			41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)	Zonisamide(DB00909)	GGCGACTGCCGTTTCCCCACA	0.473000																								0							SO:0001583	missense			ENST00000285273.4	0	1	hg19	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	26.300000	4.725381	0.892980	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.930000	4.930000	0.648220	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000001	D	0.84875	0.5569	M	0.86502	2.82	0.460610	D	0.998844	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.86086	0.1547	9	.	.	.	.	13.520500	0.615660	0.0:0.0:0.6936:0.3064	.	65;71	Q9NS85;Q68D28	CAH10_HUMAN;.	W	65;65;65;71	ENSP00000390666:R65W;ENSP00000285273:R65W;ENSP00000405388:R65W;ENSP00000340363:R71W	.	R	-	1	2	CA10	47363435	1	0.714170	1	0.803570	0.973000	0.671790	4.008000	0.571030	2.826000	0.973560	0.655000	0.942530	CGG		TCGA-FB-A4P5-01A-11D-A26I-08	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	0	0	0	21	678	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	0.999997	21	675	0	93	2		0	0	0	0	93	2	-2.468949	0	1	121410	3	38	1	0	1	1	1.989980	0	0.130000	2	0.123735	0.460000	0.290000	0.670000	0.450000	0.474524	0.460000	0	0.370000	0.570000
KCTD11	147040	broad.mit.edu	37	17	7256580	7256580	+	Missense_Mutation	SNP	C	C	T	rs35280612		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:7256580C>T	ENST00000333751.3	+	1	1373	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11			4		Prostate(122;0.157)			CTCTGCTCGCCGGGGACCCCA	0.642000																								0							SO:0001583	missense			ENST00000333751.3	1	1	hg19	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	C	17.410000	3.382499	0.618450	.	.	ENSG00000213859	ENST00000333751	T	0.71698	-0.59	5.380000	-3.060000	0.053790	.	0.158994	0.26979	U	0.021525	T	0.47002	0.1422	N	0.19112	0.55	0.093100	N	1.000000	P	0.51537	0.946	B	0.33521	0.165	T	0.55471	-0.8136	10	0.72032	D	0.01	.	15.056400	0.719170	0.774:0.226:0.0:0.0	.	107	Q693B1	KCD11_HUMAN	W	107	ENSP00000328352:R107W	ENSP00000328352:R107W	R	+	1	2	KCTD11	7197304	6.460000e-01	0.272950	8.730000e-01	0.342540	0.874000	0.502790	0.512000	0.227550	-0.389000	0.077860	0.462000	0.415740	CGG		TCGA-FB-A4P5-01A-11D-A26I-08	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	1	0	0	11	299	0	61	0	1.941789e-01	1	20	0	61	2		0	0	0	0	0	2	1	0.998382	11	298	0	61	2		0	0	0	0	61	2	-3.149275	1	1	0	0		1	0	0	0	1.967944	0	0.130000	2	0.111520	0.540000	0.280000	0.880000	0.520000	0.563833	0.540000	0	0.400000	0.710000
ITGB4	3691	broad.mit.edu	37	17	73748594	73748594	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:73748594G>A	ENST00000200181.3	+	32	4231	c.4044G>A	c.(4042-4044)atG>atA	p.M1348I	ITGB4_ENST00000579662.1_Missense_Mutation_p.M1348I|ITGB4_ENST00000339591.3_Missense_Mutation_p.M1348I|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.M1348I|ITGB4_ENST00000449880.2_Missense_Mutation_p.M1348I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4			43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		GCTTCCTTATGTACAGCGATG	0.627000																								0							SO:0001583	missense			ENST00000200181.3	1	1	hg19	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	14.880000	2.667504	0.476770	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.75938	-0.98;-0.94;-0.94	4.310000	4.310000	0.513920	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	L	0.36672	1.1	0.807220	D	1.000000	D;D;D	0.69078	0.997;0.995;0.995	D;D;D	0.80764	0.994;0.987;0.987	T	0.81342	-0.0976	10	0.46703	T	0.11	.	16.957500	0.862630	0.0:0.0:1.0:0.0	.	1348;1348;1348	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	I	1348	ENSP00000200181:M1348I;ENSP00000344079:M1348I;ENSP00000400217:M1348I	ENSP00000200181:M1348I	M	+	3	0	ITGB4	71260189	1	0.714170	1	0.803570	0.730000	0.417780	9.571000	0.981760	2.207000	0.712020	0.561000	0.740990	ATG		TCGA-FB-A4P5-01A-11D-A26I-08	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	0	0	1	18	573	0	129	1	9.885349e-01	124	107	0	129	2		0	0	0	0	0	2	1	0.999979	18	562	0	128	2		0	0	0	0	129	2	-3.524704	1	1	0	0		1	0	1	1	1.989980	0	0.130000	2	0.123735	0.460000	0.280000	0.700000	0.470000	0.483548	0.460000	0	0.370000	0.590000
SEPT9	10801	broad.mit.edu	37	17	75398245	75398245	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:75398245C>T	ENST00000427177.1	+	3	307	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000590294.1_Nonsense_Mutation_p.Q43*|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000423034.2_Nonsense_Mutation_p.Q54*|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000591198.1_Nonsense_Mutation_p.Q42*|SEPT9_ENST00000329047.8_Nonsense_Mutation_p.Q43*	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9			16			BRCA - Breast invasive adenocarcinoma(99;0.153)		CAGCTCCACCCAGAAATTCCA	0.627000																								0							SO:0001587	stop_gained			ENST00000427177.1	0	1	hg19	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	C	45.000000	11.389194	0.995550	.	.	ENSG00000184640	ENST00000427177;ENST00000329047;ENST00000423034	.	.	.	4.890000	4.890000	0.638310	.	2.942800	0.01335	U	0.011366	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.043500	0.864960	0.0:1.0:0.0:0.0	.	.	.	.	X	61;43;54	.	ENSP00000329161:Q43X	Q	+	1	0	SEPT9	72909840	1	0.714170	1	0.803570	0.997000	0.918780	4.105000	0.577970	2.262000	0.750190	0.555000	0.697020	CAG		TCGA-FB-A4P5-01A-11D-A26I-08	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	1	0	0	11	221	0	46	0	8.677940e-01	0	75	0	46	2		0	0	0	0	0	2	1	0.998250	11	216	0	46	2		0	0	0	0	46	2	-2.943210	1	1	0	0		1	0	1	1	1.989980	0	0.130000	2	0.123735	0.730000	0.390000	1.000000	1.000000	0.741941	0.730000	0	0.540000	0.960000
RCVRN	5957	broad.mit.edu	37	17	9808122	9808122	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:9808122C>T	ENST00000226193.5	-	1	816	c.376G>A	c.(376-378)Gtc>Atc	p.V126I		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin			12					CTGACCATGACGATCTCCAGC	0.642000																								0							SO:0001583	missense			ENST00000226193.5	1	1	hg19	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	C	8.226000	0.803586	0.164670	.	.	ENSG00000109047	ENST00000226193	T	0.66280	-0.2	4.860000	1.660000	0.240080	EF-hand-like domain (1);	0.252761	0.39909	N	0.001225	T	0.41282	0.1152	N	0.21508	0.67	0.807220	D	1.000000	B	0.11235	0.004	B	0.04013	0.001	T	0.11542	-1.0583	10	0.26408	T	0.33	.	7.045500	0.250420	0.0:0.6107:0.0:0.3893	.	126	P35243	RECO_HUMAN	I	126	ENSP00000226193:V126I	ENSP00000226193:V126I	V	-	1	0	RCVRN	9748847	5.200000e-02	0.205160	9.970000e-01	0.539660	0.306000	0.277900	0.015000	0.133550	0.554000	0.290610	0.655000	0.942530	GTC		TCGA-FB-A4P5-01A-11D-A26I-08	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	0	0	0	17	453	0	112	0	8.611770e-03	0	4	0	112	2		0	0	0	0	0	2	1	0.999964	17	449	0	112	2		0	0	0	0	112	2	-3.764973	1	1	0	0		1	0	0	0	1.967944	0	0.130000	2	0.111520	0.540000	0.330000	0.820000	0.540000	0.564653	0.540000	0	0.430000	0.690000
SERPINB11	89778	broad.mit.edu	37	18	61377522	61377522	+	RNA	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr18:61377522C>T	ENST00000382749.5	+	0	340				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)			6		Esophageal squamous(42;0.129)			TTCTTTTCTTCGCTGAGTCTG	0.428000													Ovarian(27;496 784 5942 8975 23930)											0											ENST00000382749.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.959000	1.222256	0.224570	2.61E-4	0.0	ENSG00000206072	ENST00000544088;ENST00000538847	D;D	0.82526	-1.62;-1.62	5.140000	4.270000	0.506960	Serpin domain (3);	0.266677	0.26734	N	0.022770	T	0.73329	0.3573	L	0.28649	0.875	0.807220	D	1.000000	B;B	0.31611	0.098;0.331	B;B	0.28385	0.033;0.089	T	0.73920	-0.3830	10	0.87932	D	0	.	11.743800	0.518090	0.0:0.9128:0.0:0.0872	.	32;32	F5GY69;Q96P15	.;SPB11_HUMAN	L	32	ENSP00000441497:S32L;ENSP00000440795:S32L	ENSP00000421854:S32L	S	+	2	0	SERPINB11	59528502	7.170000e-01	0.279660	1.100000e-01	0.214370	0.034000	0.127010	3.569000	0.538270	1.284000	0.445310	0.655000	0.942530	TCG		TCGA-FB-A4P5-01A-11D-A26I-08	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	0	0	0	6	170	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	0.965782	6	170	0	21	2		0	0	0	0	21	2	-8.067376	1	1	120850	4	35	1	0	1	1	1.997298	0	0.130000	2	0.125452	0.540000	0.230000	1.000000	1.000000	0.573279	0.540000	0	0.360000	0.780000
ZNF430	80264	broad.mit.edu	37	19	21239860	21239860	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:21239860C>T	ENST00000261560.5	+	5	927	c.746C>T	c.(745-747)aCt>aTt	p.T249I	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430			23					TCAACCCTTACTAGACACAGA	0.348000																								0							SO:0001583	missense			ENST00000261560.5	1	1	hg19	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	3.684000	-0.064825	0.072730	.	.	ENSG00000118620	ENST00000261560	T	0.33865	1.39	1.040000	-0.123000	0.135270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26195	0.0639	N	0.12471	0.22	0.093100	N	1.000000	D;P	0.56968	0.978;0.723	P;B	0.53760	0.734;0.41	T	0.12915	-1.0529	9	0.38643	T	0.18	.	4.590700	0.123060	0.0:0.5789:0.0:0.4211	.	248;249	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	I	249	ENSP00000261560:T249I	ENSP00000261560:T249I	T	+	2	0	ZNF430	21031700	0	0.058580	1.500000e-02	0.157900	0.014000	0.085840	-3.561000	0.004300	0.452000	0.268300	0.455000	0.322230	ACT		TCGA-FB-A4P5-01A-11D-A26I-08	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	0	0	0	9	290	0	30	0	3.534434e-03	0	3	0	30	2		0	0	0	0	0	2	1	0.994233	9	288	0	29	2		0	0	0	0	30	2	-9.985004	1	1	0	0		1	1	2	3	2.014925	0	0.130000	2	0.137290	0.500000	0.240000	1.000000	0.460000	0.555958	0.500000	0	0.350000	0.760000
ZNF208	7757	broad.mit.edu	37	19	22171675	22171675	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:22171675A>T	ENST00000397126.4	-	2	188	c.40T>A	c.(40-42)Tct>Act	p.S14T	ZNF208_ENST00000601773.1_Missense_Mutation_p.S14T|ZNF208_ENST00000599916.1_Missense_Mutation_p.S14T|ZNF208_ENST00000597040.1_5'UTR	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208			113		all_lung(12;0.0961)|Lung NSC(12;0.103)			TCCTCCAGAGAGAATTCTATG	0.403000																								0							SO:0001583	missense			ENST00000397126.4	1	1	hg19	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	3.819000	-0.038200	0.074970	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.01484	4.84	1.320000	-0.168000	0.133430	Krueppel-associated box (4);	.	.	.	.	T	0.02304	0.0071	.	.	.	0.093100	N	1.000000	D;P	0.63046	0.992;0.876	P;P	0.60012	0.867;0.652	T	0.27640	-1.0068	8	0.07175	T	0.84	.	3.607000	0.080460	0.3597:0.0:0.0:0.6403	.	14;14	O43345;F8WEA0	ZN208_HUMAN;.	T	14	ENSP00000380315:S14T	ENSP00000380315:S14T	S	-	1	0	ZNF208	21963515	2.000000e-03	0.142020	9.000000e-03	0.144450	0.641000	0.383120	-0.021000	0.125040	-0.610000	0.057160	0.234000	0.178320	TCT		TCGA-FB-A4P5-01A-11D-A26I-08	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	0	0	0	16	748	0	87	0	0	0	1	0	87	2		0	0	0	0	0	2	1	0.999929	16	744	0	87	2		0	0	0	0	87	2	-3.179099	1	1	0	0		1	1	2	3	2.014925	0	0.130000	2	0.137290	0.340000	0.190000	1.000000	0.320000	0.410127	0.340000	0	0.260000	0.480000
ZNF616	90317	broad.mit.edu	37	19	52619638	52619638	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:52619638T>C	ENST00000600228.1	-	4	1040	c.779A>G	c.(778-780)cAa>cGa	p.Q260R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616			48					GTGACTCCTTTGGTGTCTTAC	0.383000																								0							SO:0001583	missense			ENST00000600228.1	1	1	hg19	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	9.538000	1.112700	0.207950	.	.	ENSG00000204611	ENST00000330123	.	.	.	0.954000	-0.118000	0.135470	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25457	0.0619	L	0.28344	0.845	0.093100	N	1.000000	B	0.27594	0.182	B	0.28638	0.092	T	0.20874	-1.0262	8	0.35671	T	0.21	.	4.225900	0.105800	0.0:0.2336:0.0:0.7664	.	260	Q08AN1	ZN616_HUMAN	R	260	.	ENSP00000328722:Q260R	Q	-	2	0	ZNF616	57311450	0	0.058580	4.000000e-03	0.123270	0.858000	0.489760	-0.069000	0.115420	-0.101000	0.122190	0.254000	0.183690	CAA		TCGA-FB-A4P5-01A-11D-A26I-08	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	0	0	0	19	500	0	35	0	4.503075e-03	0	3	0	35	2		0	0	0	0	0	2	1	0.999990	19	495	0	34	2		0	0	0	0	35	2	-4.024561	1	1	0	0		1	1	2	3	2.022814	0	0.130000	2	0.138955	0.590000	0.360000	1.000000	0.570000	0.641063	0.590000	0	0.460000	0.830000
ZNF561	93134	broad.mit.edu	37	19	9721440	9721440	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:9721440G>A	ENST00000302851.3	-	6	1260	c.897C>T	c.(895-897)caC>caT	p.H299H	ZNF561_ENST00000424629.1_Silent_p.H230H|ZNF561_ENST00000354661.4_Silent_p.H163H|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561			14					GAATTTGAATGTGATCATTAA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000302851.3	1	1	hg19	CCDS12216.2																																																																																				TCGA-FB-A4P5-01A-11D-A26I-08	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	0	0	0	25	646	0	57	0	1.137424e-01	1	14	0	57	2		0	0	0	0	0	2	1	1.000000	25	641	0	57	2		0	0	0	0	57	2	-3.901997	1	1	121412	1	34	1	1	2	3	2.009114	0	0.130000	2	0.136176	0.590000	0.380000	1.000000	0.570000	0.629087	0.590000	0	0.480000	0.760000
HMCN1	83872	broad.mit.edu	37	1	186057376	186057376	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:186057376C>T	ENST00000271588.4	+	62	9774	c.9545C>T	c.(9544-9546)aCg>aTg	p.T3182M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3182M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					CCACCTCCCACGATAGCATGG	0.443000																								0							SO:0001583	missense			ENST00000271588.4	0	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	11.090000	1.535093	0.274750	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68479	-0.33;-0.33	5.630000	-1.850000	0.077840	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.735216	0.13487	N	0.384223	T	0.62925	0.2468	M	0.78456	2.415	0.093100	N	1.000000	B	0.27791	0.189	B	0.24155	0.051	T	0.54234	-0.8324	10	0.48119	T	0.1	.	11.213300	0.488130	0.0:0.5779:0.0:0.4221	.	3182	Q96RW7	HMCN1_HUMAN	M	3182	ENSP00000271588:T3182M;ENSP00000356462:T3182M	ENSP00000271588:T3182M	T	+	2	0	HMCN1	184323999	2.000000e-03	0.142020	0	0.037020	0.741000	0.422610	0.371000	0.204500	-0.692000	0.051280	-0.471000	0.050190	ACG		TCGA-FB-A4P5-01A-11D-A26I-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	0	7	232	0	27	0	1.234526e-03	0	2	0	27	2		0	0	0	0	0	2	1	0.979869	6	229	0	27	2		0	0	0	0	27	2	-3.586890	1	1	121398	3	32	1	1	2	3	2.010868	0	0.130000	2	0.136733	0.500000	0.210000	1.000000	0.440000	0.548638	0.500000	0	0.330000	0.780000
PRG4	10216	broad.mit.edu	37	1	186281436	186281436	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:186281436T>A	ENST00000445192.2	+	11	3968	c.3923T>A	c.(3922-3924)aTa>aAa	p.I1308K	PRG4_ENST00000367485.4_Missense_Mutation_p.I1215K|PRG4_ENST00000367483.4_Missense_Mutation_p.I1267K|PRG4_ENST00000367486.3_Missense_Mutation_p.I1265K|TPR_ENST00000367478.4_3'UTR|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367484.3_Missense_Mutation_p.I837K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4			102					GAACGTGCTATAGGACCTTCT	0.418000																								0							SO:0001583	missense			ENST00000445192.2	1	1	hg19	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	11.110000	1.543642	0.275630	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.07688	3.17;3.29;3.27;3.18;3.27	5.480000	1.860000	0.254190	Hemopexin/matrixin (1);	0.514144	0.16080	N	0.230549	T	0.15652	0.0377	L	0.47716	1.5	0.093100	N	1.000000	D;D;D;D	0.71674	0.988;0.988;0.998;0.988	P;P;P;P	0.62014	0.851;0.851;0.897;0.851	T	0.08534	-1.0717	10	0.87932	D	0	-2.0141	5.775400	0.182770	0.0:0.1475:0.1412:0.7113	.	1174;1215;1308;1267	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	K	1265;837;1267;1215;1308	ENSP00000356456:I1265K;ENSP00000356454:I837K;ENSP00000356453:I1267K;ENSP00000356455:I1215K;ENSP00000399679:I1308K	ENSP00000356453:I1267K	I	+	2	0	PRG4	184548059	7.000000e-03	0.166370	1.000000e-03	0.086480	0.291000	0.272940	1.709000	0.379090	0.121000	0.182840	0.477000	0.441520	ATA		TCGA-FB-A4P5-01A-11D-A26I-08	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	0	0	0	20	674	0	78	0	1.330862e-01	0	21	0	78	2		0	0	0	0	0	2	1	0.999995	20	666	0	77	2		0	0	0	0	78	2	-16.596960	1	1	0	0		1	1	2	3	2.010868	0	0.130000	2	0.136733	0.460000	0.280000	1.000000	0.440000	0.515411	0.460000	0	0.360000	0.620000
EPHA8	2046	broad.mit.edu	37	1	22923888	22923888	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:22923888G>A	ENST00000166244.3	+	10	1921	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8			61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			CCACACCTACGAGGAGCCAGG	0.637000																								0							SO:0001583	missense			ENST00000166244.3	0	1	hg19	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	20.400000	3.987973	0.745890	0.0	1.16E-4	ENSG00000070886	ENST00000166244	T	0.23754	1.89	4.630000	4.630000	0.577260	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.82716	2.605	0.807220	D	1.000000	D	0.71674	0.998	D	0.65987	0.94	T	0.61407	-0.7069	10	0.87932	D	0	.	16.210100	0.821500	0.0:0.0:1.0:0.0	.	617	P29322	EPHA8_HUMAN	K	617	ENSP00000166244:E617K	ENSP00000166244:E617K	E	+	1	0	EPHA8	22796475	1	0.714170	9.780000e-01	0.431390	0.105000	0.192720	9.657000	0.985540	2.412000	0.818960	0.491000	0.489740	GAG		TCGA-FB-A4P5-01A-11D-A26I-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	0	0	0	18	817	0	138	0	3.143196e-03	0	4	0	138	2		0	0	0	0	0	2	1	0.999979	16	807	0	136	2		0	0	0	0	138	2	-2.302281	0	1	121412	9	44	1	0	1	1	1.999275	0	0.130000	2	0.125452	0.330000	0.200000	0.500000	0.330000	0.344520	0.330000	0	0.260000	0.420000
EPHA8	2046	broad.mit.edu	37	1	22927844	22927844	+	Silent	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:22927844C>T	ENST00000166244.3	+	16	2853	c.2781C>T	c.(2779-2781)agC>agT	p.S927S		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8			61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			GAGGGGGCAGCGGTGGCGGTG	0.692000																								0							SO:0001819	synonymous_variant			ENST00000166244.3	0	1	hg19	CCDS225.1																																																																																				TCGA-FB-A4P5-01A-11D-A26I-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	0	0	0	10	443	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	0.996623	10	434	0	73	2		0	0	0	0	76	2	-3.016787	1	1	121136	1	38	1	0	1	1	1.999275	0	0.130000	2	0.125452	0.340000	0.170000	0.580000	0.330000	0.364320	0.340000	0	0.250000	0.470000
CHD5	26038	broad.mit.edu	37	1	6202252	6202252	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:6202252C>T	ENST00000262450.3	-	15	2471	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5			16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)			CTCGTTCTCCCGAATCACCGA	0.557000																								0							SO:0001583	missense			ENST00000262450.3	1	1	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	32.000000	5.152028	0.946450	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93712	-3.27	4.070000	4.070000	0.474770	DEAD-like helicase (2);SNF2-related (1);	0.076633	0.49305	D	0.000151	D	0.95475	0.8530	L	0.56769	1.78	0.807220	D	1.000000	D	0.71674	0.998	D	0.76575	0.988	D	0.94752	0.7928	10	0.35671	T	0.21	-22.1812	16.621800	0.849320	0.0:1.0:0.0:0.0	.	791	Q8TDI0	CHD5_HUMAN	Q	791;307;199;199	ENSP00000262450:R791Q	ENSP00000262450:R791Q	R	-	2	0	CHD5	6124839	1	0.714170	9.960000e-01	0.522420	0.952000	0.607820	7.693000	0.842140	1.977000	0.576050	0.561000	0.740990	CGG		TCGA-FB-A4P5-01A-11D-A26I-08	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	0	0	0	24	827	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1.000000	24	820	0	152	2		0	0	0	0	152	2	-1.968955	0	1	121412	1	34	1	1	2	3	2.013303	0	0.130000	2	0.137290	0.450000	0.290000	1.000000	0.430000	0.508542	0.450000	0	0.360000	0.600000
APOB	338	broad.mit.edu	37	2	21251239	21251239	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr2:21251239T>C	ENST00000233242.1	-	13	1916	c.1789A>G	c.(1789-1791)Att>Gtt	p.I597V	APOB_ENST00000399256.4_Missense_Mutation_p.I597V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				ATATTGGCAATATGGGAAGCC	0.418000																								0							SO:0001583	missense			ENST00000233242.1	0	1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	14.510000	2.558392	0.455900	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.57436	0.4;0.4	5.690000	3.170000	0.364340	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.352961	0.27764	N	0.017944	T	0.47229	0.1434	L	0.56769	1.78	0.369090	D	0.890822	P	0.42908	0.793	B	0.38655	0.278	T	0.57757	-0.7756	10	0.42905	T	0.14	.	12.434100	0.555900	0.0:0.0:0.2866:0.7134	.	597	P04114	APOB_HUMAN	V	597	ENSP00000233242:I597V;ENSP00000382200:I597V	ENSP00000233242:I597V	I	-	1	0	APOB	21104744	1	0.714170	1	0.803570	0.971000	0.663760	0.596000	0.240440	1.098000	0.414790	0.533000	0.621200	ATT		TCGA-FB-A4P5-01A-11D-A26I-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0	0	0	20	399	1	35		0	0	0	1	35	2		0	0	0	0	0	2	0	0.052275	20	395	1	35	32		0	0	0	1	35	2	-19.987640	1	1	0	0		1	0	1	1	1.997827	0	0.130000	2	0.125452	0.730000	0.460000	1.000000	1.000000	0.744823	0.730000	0	0.580000	0.900000
CNGA3	1261	broad.mit.edu	37	2	99013339	99013339	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr2:99013339G>A	ENST00000272602.2	+	7	1745	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	CNGA3_ENST00000393504.1_Missense_Mutation_p.R569H|CNGA3_ENST00000409937.1_Missense_Mutation_p.R573H|CNGA3_ENST00000436404.2_Missense_Mutation_p.R551H			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3			49					GCCAACATCCGCAGCATTGGC	0.582000																								0		GRCh37	CM014559	CNGA3	M		SO:0001583	missense			ENST00000272602.2	1	1	hg19	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	19.460000	3.832457	0.712580	0.0	1.16E-4	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	5.420000	5.420000	0.788660	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	H	0.96208	3.785	0.807220	D	1.000000	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.988;0.991	D	0.98965	1.0799	10	0.87932	D	0	.	12.119600	0.538830	0.0815:0.0:0.9185:0.0	.	573;551;569	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	H	569;551;569;573	ENSP00000377140:R569H;ENSP00000410070:R551H;ENSP00000272602:R569H;ENSP00000386761:R573H	ENSP00000272602:R569H	R	+	2	0	CNGA3	98379771	9.870000e-01	0.356910	1	0.803570	0.697000	0.404080	4.514000	0.604820	2.826000	0.973560	0.563000	0.778840	CGC		TCGA-FB-A4P5-01A-11D-A26I-08	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	0	0	0	31	682	1	111	0	0	0	1	1	111	2		0	0	0	0	0	2	1	0.937179	31	678	1	111	21		0	0	0	1	111	2	-4.165749	1	1	121412	3	41	1	1	2	3	2.015221	0	0.130000	2	0.137290	0.690000	0.470000	1.000000	0.670000	0.720339	0.690000	0	0.570000	0.880000
DCBLD2	131566	broad.mit.edu	37	3	98518461	98518461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr3:98518461G>A	ENST00000326840.6	-	16	2445	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Q709*	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2			25					GTGGAGGGCTGACCAACTGAA	0.527000																								0							SO:0001587	stop_gained			ENST00000326840.6	0	1	hg19	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	G	37.000000	6.627228	0.977180	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	.	.	.	5.650000	2.790000	0.327310	.	0.592892	0.15545	N	0.256738	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.2138	1.824800	0.031180	0.1818:0.169:0.4938:0.1554	.	.	.	.	X	695;709	.	ENSP00000321573:Q695X	Q	-	1	0	DCBLD2	100001151	2.500000e-02	0.190820	7.030000e-01	0.303540	0.563000	0.357120	1.076000	0.307290	1.393000	0.466050	0.655000	0.942530	CAG		TCGA-FB-A4P5-01A-11D-A26I-08	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	0	0	0	13	462	0	70	1	1.376979e-01	3	19	0	70	2		0	0	0	0	0	2	1	0.999532	13	461	0	70	2		0	0	0	0	70	2	-3.088139	1	1	0	0		1	1	2	3	2.009434	0	0.130000	2	0.136176	0.440000	0.240000	1.000000	0.420000	0.497699	0.440000	0	0.330000	0.620000
PCDHGB3	56102	broad.mit.edu	37	5	140751764	140751764	+	Silent	SNP	C	C	T	rs57763341		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:140751764C>T	ENST00000576222.1	+	1	1934	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGGGATACAACGCCTGGCTGT	0.672000																								0							SO:0001819	synonymous_variant			ENST00000576222.1	0	1	hg19	CCDS58980.1																																																																																				TCGA-FB-A4P5-01A-11D-A26I-08	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	0	0	0	8	455	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	0.988919	8	449	0	112	2		0	0	0	0	114	2	-6.967111	1	1	121404	50	50	1	1	2	3	2.010250	0	0.130000	2	0.136176	0.290000	0.130000	1.000000	0.270000	0.358387	0.290000	0	0.190000	0.440000
PCDHGB4	8641	broad.mit.edu	37	5	140769030	140769030	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:140769030G>A	ENST00000519479.1	+	1	1579	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4			37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCGCGCCTTCGAACTCACACT	0.677000																								0							SO:0001583	missense			ENST00000519479.1	1	1	hg19	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	8.696000	0.908490	0.178330	.	.	ENSG00000253953	ENST00000519479	T	0.54071	0.59	4.950000	-1.960000	0.075250	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.43831	0.1265	L	0.46947	1.48	0.093100	N	1.000000	P;P	0.44478	0.836;0.697	B;B	0.38458	0.261;0.274	T	0.29336	-1.0015	9	0.33940	T	0.23	.	15.777100	0.782320	0.1245:0.6211:0.2544:0.0	.	527;527	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	K	527	ENSP00000428288:E527K	ENSP00000428288:E527K	E	+	1	0	PCDHGB4	140749214	0	0.058580	6.880000e-01	0.301170	0.248000	0.258090	-2.903000	0.007030	-1.088000	0.030770	-2.589000	0.001650	GAA		TCGA-FB-A4P5-01A-11D-A26I-08	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	0	0	0	8	304	0	59	0	9.099181e-04	0	2	0	59	2		0	0	0	0	0	2	1	0.989189	8	301	0	59	2		0	0	0	0	59	2	-8.433194	1	1	0	0		1	1	2	3	2.010250	0	0.130000	2	0.136176	0.430000	0.190000	1.000000	0.390000	0.485255	0.430000	0	0.290000	0.650000
SLC6A7	6534	broad.mit.edu	37	5	149576606	149576606	+	Splice_Site	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:149576606C>T	ENST00000230671.2	+	4	722	c.351C>T	c.(349-351)ggC>ggT	p.G117G	SLC6A7_ENST00000524041.1_Splice_Site_p.G117G	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7			16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	L-Proline(DB00172)	CCACACCAGGCGCCGGCGCAG	0.637000																								0							SO:0001630	splice_region_variant			ENST00000230671.2	1	0	hg19	CCDS4305.1																																																																																				TCGA-FB-A4P5-01A-11D-A26I-08	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	1	0	0	5	133	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.936303	5	131	0	36	2		0	0	0	0	36	2	-7.986053	1	0	121398	3	35	1	1	2	3	2.010250	0	0.130000	2	0.136176	0.620000	0.230000	1.000000	1.000000	0.653703	0.620000	0	0.390000	1.000000
GRM6	2916	broad.mit.edu	37	5	178410024	178410024	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:178410024C>T	ENST00000517717.1	-	10	2361	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.V775M			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	p.V775M(2)		55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GTCTCGGGCACGCCACGGGCC	0.597000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000517717.1	0	1	hg19	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.400000	3.379871	0.618450	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.89485	-2.52;-2.52	5.180000	5.180000	0.714440	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.94823	0.8328	M	0.84683	2.71	0.547530	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.967	D	0.95314	0.8414	9	0.72032	D	0.01	.	16.553400	0.844780	0.0:1.0:0.0:0.0	.	775;69	O15303;Q5HYM4	GRM6_HUMAN;.	M	775	ENSP00000231188:V775M;ENSP00000430767:V775M	ENSP00000231188:V775M	V	-	1	0	GRM6	178342630	1	0.714170	7.670000e-01	0.314950	0.036000	0.129970	7.658000	0.837550	2.591000	0.875370	0.313000	0.208870	GTG		TCGA-FB-A4P5-01A-11D-A26I-08	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2	0	0	0	10	371	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	0.996806	10	367	0	69	2		0	0	0	0	70	2	-9.742636	1	1	121412	5	41	1	1	2	3	2.010250	0	0.130000	2	0.136176	0.430000	0.210000	1.000000	0.400000	0.487587	0.430000	0	0.310000	0.630000
SEMA5A	9037	broad.mit.edu	37	5	9066644	9066644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:9066644G>A	ENST00000382496.5	-	17	2853	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A			81					CATGTGTATCGGAATCGTTGC	0.557000																								0							SO:0001587	stop_gained			ENST00000382496.5	0	1	hg19	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	44.000000	10.876622	0.994820	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.520000	4.650000	0.581690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.937300	0.640320	0.0:0.0:0.8468:0.1532	.	.	.	.	X	730	.	ENSP00000371936:R730X	R	-	1	2	SEMA5A	9119644	1	0.714170	9.610000e-01	0.401460	0.351000	0.292360	2.938000	0.489870	1.468000	0.480640	-0.230000	0.122520	CGA		TCGA-FB-A4P5-01A-11D-A26I-08	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	0	0	0	26	773	0	89	0	2.184866e-02	0	7	0	89	2		0	0	0	0	0	2	1	1.000000	26	767	0	87	2		0	0	0	0	89	2	-2.391692	0	1	0	0		1	1	2	3	2.010809	0	0.130000	2	0.136733	0.520000	0.340000	1.000000	0.500000	0.565041	0.520000	0	0.420000	0.670000
SP4	6671	broad.mit.edu	37	7	21516727	21516727	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr7:21516727T>C	ENST00000222584.3	+	4	1927	c.1709T>C	c.(1708-1710)gTc>gCc	p.V570A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor			35					GGAGTAAAAGTCCAGCAAGCT	0.378000																								0							SO:0001583	missense			ENST00000222584.3	0	1	hg19	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	T	17.250000	3.341432	0.609630	.	.	ENSG00000105866	ENST00000222584;ENST00000432066	T	0.10099	2.91	6.170000	6.170000	0.997090	.	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	L	0.49126	1.545	0.807220	D	1.000000	D	0.58970	0.984	D	0.68192	0.956	T	0.01858	-1.1259	10	0.18276	T	0.48	.	16.822200	0.858350	0.0:0.0:0.0:1.0	.	570	Q02446	SP4_HUMAN	A	570;13	ENSP00000222584:V570A	ENSP00000222584:V570A	V	+	2	0	SP4	21483252	1	0.714170	1	0.803570	0.998000	0.957120	7.611000	0.829620	2.371000	0.807100	0.533000	0.621200	GTC		TCGA-FB-A4P5-01A-11D-A26I-08	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	0	0	0	5	187	0	28	0	1.110230e-03	0	2	0	28	2		0	0	0	0	0	2	1	0.933953	5	182	0	28	2		0	0	0	0	28	2	-7.234855	1	1	0	0		1	1	2	3	2.012047	0	0.130000	2	0.136733	0.460000	0.170000	1.000000	0.390000	0.514766	0.460000	0	0.280000	0.760000
RADIL	55698	broad.mit.edu	37	7	4917630	4917630	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr7:4917630G>A	ENST00000399583.3	-	2	328	c.141C>T	c.(139-141)ggC>ggT	p.G47G	RADIL_ENST00000536091.1_Silent_p.G47G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains			41		Ovarian(82;0.0175)			CATCGCTGGCGCCCAGGCTGG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000399583.3	0	1	hg19	CCDS43544.1																																																																																				TCGA-FB-A4P5-01A-11D-A26I-08	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	1	0	0	6	106	0	20	0	0	0	1	0	20	2		0	0	0	0	0	2	1	0.964368	5	105	0	20	2		0	0	0	0	20	2	-9.908031	1	1	120894	7	34	1	1	2	3	2.012047	0	0.130000	2	0.136733	0.900000	0.370000	1.000000	1.000000	0.828945	0.900000	1	0.590000	1.000000
HAS2	3037	broad.mit.edu	37	8	122641537	122641537	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr8:122641537G>T	ENST00000303924.4	-	2	581	c.44C>A	c.(43-45)aCc>aAc	p.T15N		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2		HAS2/PLAG1(10)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)		AAAGAGTGTGGTTCCAATTAT	0.378000																								0							SO:0001583	missense			ENST00000303924.4	0	1	hg19	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	23.100000	4.369297	0.824630	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.57107	0.42	6.170000	6.170000	0.997090	.	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	M	0.79123	2.44	0.807220	D	1.000000	D	0.56035	0.974	P	0.55615	0.78	T	0.69495	-0.5130	10	0.49607	T	0.09	-22.0036	20.879400	0.998670	0.0:0.0:1.0:0.0	.	15	Q92819	HAS2_HUMAN	N	15	ENSP00000306991:T15N	ENSP00000306991:T15N	T	-	2	0	HAS2	122710718	1	0.714170	1	0.803570	0.991000	0.796840	9.800000	0.991240	2.941000	0.997820	0.655000	0.942530	ACC		TCGA-FB-A4P5-01A-11D-A26I-08	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	0	0	0	8	328	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	0.989325	8	326	0	26	2		0	0	0	0	26	2	-8.452718	1	1	0	0		1	0	1	1	1.991578	0	0.130000	2	0.123735	0.370000	0.170000	0.660000	0.360000	0.398157	0.370000	0	0.260000	0.520000
TRAPPC9	83696	broad.mit.edu	37	8	141461429	141461429	+	Missense_Mutation	SNP	G	G	A	rs142839408		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr8:141461429G>A	ENST00000438773.2	-	2	177	c.44C>T	c.(43-45)aCg>aTg	p.T15M	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.T15M|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.T113M	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9			47					CACGAGCAGCGTCTGGTGGTC	0.537000																								0							SO:0001583	missense			ENST00000438773.2	1	1	hg19	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	19.950000	3.921045	0.732130	0.001136	2.33E-4	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.260000	4.390000	0.528550	.	0.046901	0.85682	D	0.000000	T	0.70369	0.3216	L	0.54323	1.7	0.442210	D	0.997050	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.967;0.967	T	0.71474	-0.4582	9	0.51188	T	0.08	.	13.901700	0.638090	0.0735:0.0:0.9265:0.0	.	15;15;113	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	M	113;15;15	.	ENSP00000373978:T15M	T	-	2	0	TRAPPC9	141530611	1	0.714170	9.240000e-01	0.367210	0.956000	0.617450	9.640000	0.984530	1.210000	0.433360	0.650000	0.862430	ACG		TCGA-FB-A4P5-01A-11D-A26I-08	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	0	0	0	9	191	0	35	0	8.851073e-02	0	10	0	35	2		0	0	0	0	0	2	1	0.994411	9	190	0	35	2		0	0	0	0	35	2	-11.483710	1	1	121346	28	44	1	0	1	1	1.991578	0	0.130000	2	0.123735	0.700000	0.350000	1.000000	1.000000	0.712860	0.700000	0	0.500000	0.940000
PPAPDC3	84814	broad.mit.edu	37	9	134165668	134165668	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr9:134165668G>A	ENST00000372264.3	+	1	588	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.R95Q	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3			16	all_hematologic(7;0.0119)				ATGTCCAAGCGGCTGGGGGTG	0.652000																								0							SO:0001583	missense			ENST00000372264.3	0	1	hg19	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	G	37.000000	6.011501	0.972000	.	.	ENSG00000160539	ENST00000372264;ENST00000372261	T;T	0.50548	1.8;0.74	5.690000	5.690000	0.884480	.	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.71581	2.175	0.807220	D	1.000000	D	0.69078	0.997	D	0.70227	0.968	T	0.70174	-0.4944	10	0.62326	D	0.03	-40.1758	18.802000	0.920220	0.0:0.0:1.0:0.0	.	95	Q8NBV4	PPAC3_HUMAN	Q	95	ENSP00000361338:R95Q;ENSP00000361335:R95Q	ENSP00000361335:R95Q	R	+	2	0	PPAPDC3	133155489	1	0.714170	1	0.803570	0.978000	0.694770	7.608000	0.828980	2.682000	0.913650	0.561000	0.740990	CGG		TCGA-FB-A4P5-01A-11D-A26I-08	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	0	0	0	11	536	0	119	0	5.166418e-04	0	2	0	119	2		0	0	0	0	0	2	1	0.998256	11	530	0	118	2		0	0	0	0	119	2	-3.034886	1	1	0	0		1	1	2	3	2.005945	0	0.130000	2	0.135618	0.330000	0.170000	1.000000	0.300000	0.388362	0.330000	0	0.230000	0.470000
TRPM6	140803	broad.mit.edu	37	9	77386696	77386696	+	Silent	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr9:77386696G>A	ENST00000360774.1	-	25	3696	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C	TRPM6_ENST00000451710.3_Silent_p.C1153C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.C1153C|TRPM6_ENST00000361255.3_Silent_p.C1148C|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Silent_p.C1148C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6			126					ATTTTTCCACGCACTGCTCCT	0.358000																								0							SO:0001819	synonymous_variant			ENST00000360774.1	0	1	hg19	CCDS6647.1																																																																																				TCGA-FB-A4P5-01A-11D-A26I-08	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	1	0	0	10	213	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	0.996865	9	211	0	20	2		0	0	0	0	20	2	-2.978244	1	1	121410	4	34	1	0	0	0	1.965775	0	0.130000	2	0.110338	0.680000	0.350000	1.000000	1.000000	0.697920	0.680000	0	0.490000	0.900000
DCAF12L2	340578	broad.mit.edu	37	X	125299285	125299285	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:125299285G>C	ENST00000360028.2	-	1	649	c.623C>G	c.(622-624)gCt>gGt	p.A208G	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A208G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2			64					GCCGCTCACAGCTACGGTGTC	0.647000																								0							SO:0001583	missense			ENST00000360028.2	1	1	hg19	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	11.110000	1.543243	0.275630	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.60171	0.21;0.21	3.870000	0.855000	0.190130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.817806	0.10000	N	0.728605	T	0.56702	0.2003	L	0.51422	1.61	0.308150	N	0.738405	P	0.44659	0.84	P	0.48552	0.581	T	0.57717	-0.7763	10	0.87932	D	0	.	6.754900	0.235070	0.4053:0.0:0.5947:0.0	.	208	Q5VW00	DC122_HUMAN	G	208	ENSP00000441489:A208G;ENSP00000353128:A208G	ENSP00000353128:A208G	A	-	2	0	DCAF12L2	125126966	9.980000e-01	0.408360	2.000000e-03	0.105220	0.010000	0.072450	2.707000	0.471430	0.042000	0.157170	0.544000	0.684100	GCT		TCGA-FB-A4P5-01A-11D-A26I-08	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	0	0	0	10	361	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	0.996805	10	357	0	67	2		0	0	0	0	68	2	-9.829924	1	1	0	0		1	0	1	1			0.130000	2	0.130000	0.420000	0.210000	0.710000	0.410000	0.445498	0.420000	0	0.300000	0.570000
FRMD7	90167	broad.mit.edu	37	X	131216469	131216469	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:131216469G>A	ENST00000298542.4	-	9	1002	c.827C>T	c.(826-828)gCt>gTt	p.A276V	FRMD7_ENST00000370879.1_Missense_Mutation_p.A156V|FRMD7_ENST00000464296.1_Missense_Mutation_p.A261V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7			24	Acute lymphoblastic leukemia(192;0.000127)				CCTGAAGAAAGCATGGTATTC	0.468000																								0							SO:0001583	missense			ENST00000298542.4	1	1	hg19	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	32.000000	5.112065	0.943390	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.87650	-2.28;-2.28;-2.28	5.200000	5.200000	0.720130	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.116646	0.56097	D	0.000024	D	0.94686	0.8286	M	0.90019	3.08	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.95702	0.8750	10	0.87932	D	0	.	16.979300	0.863230	0.0:0.0:1.0:0.0	.	261;276	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	V	156;276;261	ENSP00000359916:A156V;ENSP00000298542:A276V;ENSP00000417996:A261V	ENSP00000298542:A276V	A	-	2	0	FRMD7	131044150	1	0.714170	1	0.803570	0.913000	0.542940	9.813000	0.992860	2.305000	0.776050	0.544000	0.684100	GCT		TCGA-FB-A4P5-01A-11D-A26I-08	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	0	0	0	41	1459	0	175		0	0	0	0	175	2		0	0	0	0	0	2	1	1.000000	41	1447	0	175	2		0	0	0	0	175	2	-3.378389	1	1	0	0		1	0	1	1			0.130000	2	0.130000	0.410000	0.300000	0.550000	0.420000	0.428266	0.410000	0	0.350000	0.490000
MED14	9282	broad.mit.edu	37	X	40573077	40573077	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:40573077C>T	ENST00000324817.1	-	5	723	c.605G>A	c.(604-606)cGg>cAg	p.R202Q		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14			39					GGTTACAAGCCGATGTCTAAG	0.383000																								0							SO:0001583	missense			ENST00000324817.1	0	1	hg19	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	36.000000	5.665183	0.967450	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.170000	5.170000	0.711590	.	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	M	0.88105	2.93	0.807220	D	1.000000	D	0.54397	0.966	P	0.47645	0.553	T	0.82108	-0.0620	9	0.72032	D	0.01	.	18.065800	0.893900	0.0:1.0:0.0:0.0	.	202	O60244	MED14_HUMAN	Q	202	.	ENSP00000323720:R202Q	R	-	2	0	MED14	40458021	1	0.714170	1	0.803570	0.998000	0.957120	7.400000	0.799490	2.290000	0.770570	0.544000	0.684100	CGG		TCGA-FB-A4P5-01A-11D-A26I-08	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	0	0	0	16	502	1	42	0	6.986228e-03	0	12	1	42	3		0	0	0	0	0	2	0	0.007580	16	493	1	41	33		0	0	0	1	42	2	-2.679387	1	1	0	0		1	0	1	1			0.130000	2	0.130000	0.480000	0.280000	0.730000	0.470000	0.496449	0.480000	0	0.370000	0.610000
TBC1D25	4943	broad.mit.edu	37	X	48418156	48418156	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:48418156C>T	ENST00000376771.4	+	6	1201	c.860C>T	c.(859-861)aCg>aTg	p.T287M	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.T33M	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25			4					ATCCGCAGCACGGTCCTCAAG	0.627000																								0							SO:0001583	missense			ENST00000376771.4	1	1	hg19	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	C	10.150000	1.272312	0.232210	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.12361	2.69;2.69	5.890000	4.950000	0.653090	Rab-GAP/TBC domain (4);	0.053790	0.64402	D	0.000001	T	0.03178	0.0093	N	0.00765	-1.205	0.345690	D	0.713181	B;B;B	0.25441	0.126;0.023;0.013	B;B;B	0.14023	0.01;0.01;0.01	T	0.28996	-1.0026	10	0.02654	T	1	-2.3984	9.728700	0.403480	0.3521:0.6479:0.0:0.0	.	291;229;287	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	M	287;33	ENSP00000365962:T287M;ENSP00000444091:T33M	ENSP00000365962:T287M	T	+	2	0	TBC1D25	48303100	9.980000e-01	0.408360	9.670000e-01	0.410340	0.807000	0.456020	3.928000	0.565060	2.499000	0.843000	0.529000	0.557590	ACG		TCGA-FB-A4P5-01A-11D-A26I-08	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	0	0	0	7	193	0	36	0	2.188141e-01	0	22	0	36	2		0	0	0	0	0	2	1	0.980828	7	192	0	36	2		0	0	0	0	36	2	-9.311809	1	1	0	0		1	0	1	1			0.130000	2	0.130000	0.550000	0.250000	1.000000	1.000000	0.584820	0.550000	0	0.380000	0.780000
TFE3	7030	broad.mit.edu	37	X	48896768	48896768	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:48896768C>T	ENST00000315869.7	-	3	657	c.398G>A	c.(397-399)cGt>cAt	p.R133H	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	1					CTGTTCCCGACGCTCACGCCT	0.662000			T	SFPQ, ASPSCR1, PRCC, NONO, CLTC	papillary renal, alveolar soft part sarcoma, renal										Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0							SO:0001583	missense			ENST00000315869.7	0	1	hg19	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	C	15.440000	2.834420	0.509510	.	.	ENSG00000068323	ENST00000315869	T	0.17370	2.28	5.360000	4.490000	0.547850	.	0.207799	0.40554	N	0.001077	T	0.12646	0.0307	L	0.52011	1.625	0.305570	N	0.764871	P	0.49783	0.928	B	0.35813	0.211	T	0.23797	-1.0178	10	0.72032	D	0.01	-7.8369	6.423900	0.217580	0.0:0.8025:0.0:0.1975	.	133	P19532	TFE3_HUMAN	H	133	ENSP00000314129:R133H	ENSP00000314129:R133H	R	-	2	0	TFE3	48783712	2.530000e-01	0.239820	9.980000e-01	0.565050	0.716000	0.411820	0.777000	0.267180	2.224000	0.724170	0.513000	0.501650	CGT		TCGA-FB-A4P5-01A-11D-A26I-08	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	0	0	0	4	87	0	13	0	4.734416e-01	0	31	0	13	2		0	0	0	0	0	2	1	0.881091	4	83	0	13	2		0	0	0	0	13	2	-8.189270	1	1	0	0		1	0	1	1			0.130000	2	0.130000	0.710000	0.250000	1.000000	1.000000	0.713265	0.710000	0	0.440000	1.000000
SLC7A3	84889	broad.mit.edu	37	X	70146745	70146745	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:70146745T>C	ENST00000374299.3	-	9	1577	c.1433A>G	c.(1432-1434)tAt>tGt	p.Y478C	SLC7A3_ENST00000298085.4_Missense_Mutation_p.Y478C			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3			31	Renal(35;0.156)			L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAACAAACATAGACAATTTG	0.488000																								0							SO:0001583	missense			ENST00000374299.3	0	1	hg19	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	T	13.070000	2.126783	0.375330	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88431	-2.38;-2.38	5.310000	5.310000	0.753090	.	0.111999	0.64402	D	0.000006	D	0.89626	0.6769	M	0.86028	2.79	0.520990	D	0.999945	B	0.26081	0.141	B	0.25759	0.063	D	0.88089	0.2812	10	0.51188	T	0.08	.	13.061000	0.590080	0.0:0.0:0.0:1.0	.	478	Q8WY07	CTR3_HUMAN	C	478	ENSP00000363417:Y478C;ENSP00000298085:Y478C	ENSP00000298085:Y478C	Y	-	2	0	SLC7A3	70063470	1	0.714170	1	0.803570	0.951000	0.605550	5.912000	0.699480	1.968000	0.572510	0.430000	0.284900	TAT		TCGA-FB-A4P5-01A-11D-A26I-08	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	0	0	0	7	208	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	0.980475	7	206	0	18	2		0	0	0	0	18	2	-9.330272	1	1	0	0		1	0	1	1			0.130000	2	0.130000	0.520000	0.230000	0.940000	0.480000	0.547459	0.520000	0	0.350000	0.730000
TGIF2LX	90316	broad.mit.edu	37	X	89177404	89177404	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:89177404G>A	ENST00000561129.2	+	1	450	c.320G>A	c.(319-321)cGc>cAc	p.R107H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R107H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked			40					GCTCGCAGACGCATTCTCCCG	0.493000																								0							SO:0001583	missense			ENST00000561129.2	0	1	hg19	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	16.150000	3.041557	0.550030	.	.	ENSG00000153779	ENST00000283891	D	0.98617	-5.03	3.080000	2.180000	0.277750	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	.	.	.	.	D	0.99245	0.9737	H	0.96048	3.76	0.188730	N	0.999989	D	0.76494	0.999	D	0.70227	0.968	D	0.95720	0.8765	8	.	.	.	-22.4853	8.104400	0.308770	0.1341:0.0:0.8659:0.0	.	107	Q8IUE1	TF2LX_HUMAN	H	107	ENSP00000355119:R107H	.	R	+	2	0	TGIF2LX	89064060	2.320000e-01	0.237620	1.000000e-03	0.086480	0.285000	0.270930	3.495000	0.532800	0.663000	0.310270	0.513000	0.501650	CGC		TCGA-FB-A4P5-01A-11D-A26I-08	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	0	0	0	20	859	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	0.999992	18	822	0	126	2		0	0	0	0	108	2	-2.560905	1	1	0	0		1	0	1	1			0.130000	2	0.130000	0.350000	0.220000	0.520000	0.350000	0.363915	0.350000	0	0.280000	0.440000
