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
ARL5B	221079	broad.mit.edu	37	10	18961589	18961595	+	Frame_Shift_Del	DEL	ACTAGCT	ACTAGCT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:18961589_18961595delACTAGCT	ENST00000377275.3	+	4	527_533	c.294_300delACTAGCT	c.(292-300)cgactagctfs	p.RLA98fs		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B			2					ACAGGGAACGACTAGCTATTACAAAAG	0.309000																								0							SO:0001589	frameshift_variant			ENST00000377275.3	1	1	hg19	CCDS7131.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	1	0	0	39	555	0	259	0	3.995909e-02	1	4	0	259	2	0	0	0	0	0	0		1	0.998148	60	568	4	259	20								-7.858647	1	1	0	0		1	0	1	1	2.049442	0	0.350000	1.860000	0.348861	0.370000	0.260000	0.490000	0.380000	0.381637	0.370000	0	0.310000	0.440000
MFHAS1	9258	broad.mit.edu	37	8	8749703	8749703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:8749703delG	ENST00000276282.6	-	1	1452	c.866delC	c.(865-867)cctfs	p.P289fs		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1			21		Hepatocellular(245;0.217)			CAGCGCGGCAGGGAACTCCTC	0.627000													Melanoma(103;1201 2045 17515 28966)											0							SO:0001589	frameshift_variant			ENST00000276282.6	1	0	hg19	CCDS34844.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	1	0	0	54	282	0	121	0	3.191968e-01	1	6	0	121	2	0	0	0	0	0	0		1	0.999983	64	278	4	122	22								-20.000000	1	1	0	0		1	1	2	3	2.059506	0	0.350000	1.860000	0.352267	0.920000	0.700000	1.000000	1.000000	0.909728	0.920000	1	0.800000	1.000000
OTUD6B	51633	broad.mit.edu	37	8	92097044	92097046	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:92097044_92097046delATT	ENST00000285420.4	+	7	1019_1021	c.920_922delATT	c.(919-924)cattat>cat	p.Y308del	OTUD6B_ENST00000404789.3_In_Frame_Del_p.Y177del	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B			11			BRCA - Breast invasive adenocarcinoma(11;0.0187)		TTAGGAGAACATTATAATTCGGT	0.276000																								0							SO:0001651	inframe_deletion			ENST00000285420.4	0	1	hg19	CCDS6253.2																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	1	0	0	15	90	0	33	0	2.833040e-01	0	7	0	33	2	0	0	0	0	0	0		1	0.999864	7	92	0	32	2								-10.055960	1	1	0	0		1	0	0	0	2.025635	0	0.350000	1.860000	0.340771	0.800000	0.480000	1.000000	1.000000	0.805918	0.800000	0	0.630000	1.000000
PSD	5662	broad.mit.edu	37	10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:104173704C>T	ENST00000020673.5	-	5	1901	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.A459T	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing			34					GCAAGTGGGGCGGGAGCTGGT	0.657000																								0							SO:0001583	missense			ENST00000020673.5	1	1	hg19	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847795	0.51164	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.49720	0.77;0.77	4.78	4.78	0.61160	.	0.277670	0.29396	N	0.012273	T	0.31544	0.0800	L	0.27053	0.805	0.35766	D	0.820535	P	0.35551	0.509	B	0.20184	0.028	T	0.37314	-0.9711	10	0.19147	T	0.46	.	17.8792	0.88835	0.0:1.0:0.0:0.0	.	459	A5PKW4	PSD1_HUMAN	T	459;362;459	ENSP00000020673:A459T;ENSP00000384830:A459T	ENSP00000020673:A459T	A	-	1	0	PSD	104163694	1.000000	0.71417	0.995000	0.50966	0.271000	0.26615	5.034000	0.64152	2.224000	0.72417	0.555000	0.69702	GCC		TCGA-HZ-A49I-01A-12D-A26I-08	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2	1	0	1	75	329	0	193	1	2.364117e-01	3	2	0	193	2		0	0	0	0	0	2	1	1.000000	73	324	0	190	2								-3.267264	1	1	121408	3	32	1	0	1	1	2.049385	0	0.350000	1.860000	0.348861	0.990000	0.850000	1.000000	1.000000	0.981164	0.990000	1	0.940000	1.000000
CUBN	8029	broad.mit.edu	37	10	17026279	17026279	+	Splice_Site	SNP	C	C	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:17026279C>A	ENST00000377833.4	-	30	4416		c.e30-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCATAGATCTAACATGGGA	0.473000																								0							SO:0001630	splice_region_variant			ENST00000377833.4	1	1	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547261	0.65311	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUBN	17066285	1.000000	0.71417	0.929000	0.37066	0.742000	0.42306	7.165000	0.77544	2.826000	0.97356	0.655000	0.94253	.		TCGA-HZ-A49I-01A-12D-A26I-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	1	48	234	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1.000000	48	231	0	99	2								-20.000000	1	1	0	0		1	0	1	1	2.049442	0	0.350000	1.860000	0.348861	0.960000	0.730000	1.000000	1.000000	0.937154	0.960000	1	0.840000	1.000000
ARHGAP12	94134	broad.mit.edu	37	10	32143120	32143120	+	Silent	SNP	T	T	C			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:32143120T>C	ENST00000344936.2	-	5	1197	c.963A>G	c.(961-963)gaA>gaG	p.E321E	ARHGAP12_ENST00000396144.4_Silent_p.E321E|ARHGAP12_ENST00000311380.4_Intron|ARHGAP12_ENST00000375250.5_Silent_p.E321E|ARHGAP12_ENST00000375245.4_Intron	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12			31		Prostate(175;0.0199)			AGTAGTTTTCTTCCGATGAAA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000344936.2	1	1	hg19	CCDS7170.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1	1	0	0	73	298	0	76	0	9.347391e-01	1	20	0	76	2		0	0	0	0	0	2	1	1.000000	73	296	0	76	2								-20.000000	1	1	0	0		1	0	1	1	2.049442	0	0.350000	1.860000	0.348861	0.990000	0.890000	1.000000	1.000000	0.992313	0.990000	1	0.990000	1.000000
P4HA1	5033	broad.mit.edu	37	10	74806700	74806700	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:74806700C>G	ENST00000307116.2	-	8	1176	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	P4HA1_ENST00000440381.1_Missense_Mutation_p.D354H|P4HA1_ENST00000373008.2_Missense_Mutation_p.D354H|P4HA1_ENST00000412021.2_Missense_Mutation_p.D354H|P4HA1_ENST00000394890.2_Missense_Mutation_p.D354H|P4HA1_ENST00000263556.3_Missense_Mutation_p.D354H			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)	TTTGCTAGGTCTTTGACGATT	0.328000													Colon(147;367 2405 2662 52127)											0							SO:0001583	missense			ENST00000307116.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.17	3.047064	0.55110	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.45668	0.9;0.9;0.9;0.9;0.9;0.89	5.94	5.94	0.96194	Prolyl 4-hydroxylase, alpha subunit (1);	0.204990	0.49916	D	0.000139	T	0.36082	0.0954	L	0.29908	0.895	0.44188	D	0.997006	B;P;P	0.41159	0.002;0.626;0.74	B;B;B	0.36534	0.006;0.227;0.227	T	0.18871	-1.0323	10	0.56958	D	0.05	-16.6435	20.369	0.98888	0.0:1.0:0.0:0.0	.	354;354;354	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	H	354	ENSP00000307318:D354H;ENSP00000362099:D354H;ENSP00000411688:D354H;ENSP00000378353:D354H;ENSP00000263556:D354H;ENSP00000414464:D354H	ENSP00000263556:D354H	D	-	1	0	P4HA1	74476706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.698000	0.61789	2.819000	0.97034	0.650000	0.86243	GAC		TCGA-HZ-A49I-01A-12D-A26I-08	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	0	0	0	17	672	0	187	1	6.968838e-01	2	94	0	187	2		0	0	0	0	0	2	1	0.999962	18	664	0	186	2								-3.263552	1	1	0	0		1	0	0	0	2.040865	0	0.350000	1.860000	0.347717	0.140000	0.080000	0.220000	0.140000	0.147927	0.140000	0	0.100000	0.180000
GRID1	2894	broad.mit.edu	37	10	87628834	87628834	+	Missense_Mutation	SNP	G	G	A	rs143353694		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:87628834G>A	ENST00000327946.7	-	6	969	c.884C>T	c.(883-885)aCg>aTg	p.T295M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1			106					GTTGTTCCTCGTGCATTTCTG	0.572000										Multiple Myeloma(13;0.14)														0							SO:0001583	missense			ENST00000327946.7	1	1	hg19	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117851	0.37339	0.0	3.49E-4	ENSG00000182771	ENST00000327946	D	0.82526	-1.62	5.71	4.58	0.56647	Extracellular ligand-binding receptor (1);	0.283290	0.48286	N	0.000183	T	0.50769	0.1635	N	0.00436	-1.5	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44697	-0.9311	10	0.15066	T	0.55	.	8.8037	0.34925	0.8007:0.0:0.1993:0.0	.	295	Q9ULK0	GRID1_HUMAN	M	295	ENSP00000330148:T295M	ENSP00000330148:T295M	T	-	2	0	GRID1	87618814	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.464000	0.60134	0.991000	0.38814	-0.254000	0.11334	ACG		TCGA-HZ-A49I-01A-12D-A26I-08	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	1	90	370	0	164	0	8.481529e-01	1	15	0	164	2		0	0	0	0	0	2	1	1.000000	90	369	0	162	2								-3.592518	1	1	121412	26	46	1	0	1	1	2.049385	0	0.350000	1.860000	0.348861	0.990000	0.910000	1.000000	1.000000	0.993820	0.990000	1	0.990000	1.000000
TLL2	7093	broad.mit.edu	37	10	98145915	98145915	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:98145915G>A	ENST00000357947.3	-	15	2135	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2			58		Colorectal(252;0.0846)			ATACTCCTTCGGCCACCCAGG	0.532000																								0							SO:0001583	missense			ENST00000357947.3	1	1	hg19	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175833	0.94807	.	.	ENSG00000095587	ENST00000357947	T	0.53206	0.63	4.98	4.98	0.66077	CUB (5);	0.000000	0.45361	D	0.000367	T	0.78578	0.4305	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84878	0.0829	10	0.72032	D	0.01	.	17.7792	0.88518	0.0:0.0:1.0:0.0	.	637	Q9Y6L7	TLL2_HUMAN	L	637	ENSP00000350630:P637L	ENSP00000350630:P637L	P	-	2	0	TLL2	98135905	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	9.601000	0.98297	2.761000	0.94854	0.585000	0.79938	CCG		TCGA-HZ-A49I-01A-12D-A26I-08	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1	1	0	1	86	518	0	249		0	0	0	0	249	2		0	0	0	0	0	2	1	1.000000	84	515	0	245	2								-2.879520	1	1	0	0		1	0	1	1	2.049385	0	0.350000	1.860000	0.348861	0.800000	0.650000	0.970000	0.810000	0.815906	0.800000	0	0.730000	0.890000
GLB1L2	89944	broad.mit.edu	37	11	134244879	134244879	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:134244879A>C	ENST00000535456.2	+	19	2026	c.1838A>C	c.(1837-1839)gAg>gCg	p.E613A	GLB1L2_ENST00000389881.3_Missense_Mutation_p.E613A|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.E613A	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2			41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)			ATCGTTTTTGAGGAGACGATG	0.627000																								0							SO:0001583	missense			ENST00000535456.2	1	1	hg19	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.02|17.02	3.280796|3.280796	0.59758|0.59758	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.95001|.	-3.58;-3.58;-3.58|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Galactose-binding domain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86497|.	0.5947|.	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70016|.	0.967|.	D|.	0.90373|.	0.4382|.	10|.	0.87932|.	D|.	0|.	-36.4735|-36.4735	13.8558|13.8558	0.63527|0.63527	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	613|.	Q8IW92|.	GLBL2_HUMAN|.	A|C	613|551	ENSP00000344659:E613A;ENSP00000444628:E613A;ENSP00000374531:E613A|.	ENSP00000344659:E613A|.	E|X	+|+	2|3	0|0	GLB1L2|GLB1L2	133750089|133750089	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.192000|0.192000	0.23643|0.23643	6.939000|6.939000	0.75911|0.75911	2.001000|2.001000	0.58596|0.58596	0.482000|0.482000	0.46254|0.46254	GAG|TGA		TCGA-HZ-A49I-01A-12D-A26I-08	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	1	0	1	21	107	0	55	1	9.646393e-01	15	16	0	55	2		0	0	0	0	0	2	1	0.999998	21	102	0	55	2								-20.000000	1	1	121406	1	29	1	0	0	0	2.036179	0	0.350000	1.860000	0.345418	0.920000	0.600000	1.000000	1.000000	0.896003	0.920000	1	0.750000	1.000000
RSRC2	65117	broad.mit.edu	37	12	122999745	122999745	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:122999745C>T	ENST00000331738.7	-	6	777	c.632G>A	c.(631-633)aGa>aAa	p.R211K	RSRC2_ENST00000354654.2_Missense_Mutation_p.R163K|RSRC2_ENST00000392442.2_5'Flank	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2			24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				GCTAAATCTTCTCGGCTTTTC	0.378000																								0							SO:0001583	missense			ENST00000331738.7	1	1	hg19	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802748	0.70682	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.23950	2.35;1.88;1.88	5.63	5.63	0.86233	.	0.144353	0.64402	D	0.000005	T	0.21590	0.0520	L	0.27053	0.805	0.39090	D	0.961074	P;B;P;B	0.40834	0.73;0.397;0.73;0.397	B;B;B;B	0.38755	0.281;0.173;0.281;0.173	T	0.02909	-1.1095	10	0.20519	T	0.43	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	211;163;211;152	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.;.;RSRC2_HUMAN;.	K	211;163;211;152	ENSP00000330188:R211K;ENSP00000346678:R163K;ENSP00000343315:R152K	ENSP00000330188:R211K	R	-	2	0	RSRC2	121565698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.692000	0.54727	2.814000	0.96858	0.655000	0.94253	AGA		TCGA-HZ-A49I-01A-12D-A26I-08	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	1	0	1	70	334	0	114	1	9.999997e-01	50	55	0	114	2		0	0	0	0	0	2	1	1.000000	69	331	0	114	2								-20.000000	1	1	0	0		1	0	1	1	1.808274	1	0.350000	1.860000	0.228487	0.820000	0.660000	1.000000	0.830000	0.832943	0.820000	0	0.730000	0.920000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	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-A49I-01A-12D-A26I-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	43	101	0	33	1	8.439835e-01	7	3	0	33	2	1	1	78	185	0	500	2	1	1.000000	42	100	0	33	2								-20.000000	1	1	121404	2	44	1	2	2	4	2.654299	1	0.350000	1.860000	0.505703	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MDM2	4193	broad.mit.edu	37	12	69218184	69218184	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:69218184C>G	ENST00000350057.5	+	4	307	c.307C>G	c.(307-309)Cac>Gac	p.H103D	MDM2_ENST00000360430.2_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.H134D|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase			19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		GAACAGGTGTCACCTTGAAGG	0.423000			A		sarcoma, glioma, colorectal, other										Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		M, O, E, L	0							SO:0001583	missense			ENST00000350057.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.304	-0.971751	0.02215	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000311440;ENST00000311420;ENST00000539479;ENST00000393415;ENST00000393416;ENST00000350057	T;T;T	0.43688	1.54;0.94;1.54	5.65	3.79	0.43588	.	0.565311	0.20923	N	0.083253	T	0.20455	0.0492	N	0.08118	0	0.26660	N	0.971938	B;B;B;B	0.19331	0.0;0.023;0.035;0.0	B;B;B;B	0.14023	0.001;0.01;0.009;0.001	T	0.17258	-1.0375	9	.	.	.	-9.2634	8.905	0.35519	0.1483:0.7763:0.0:0.0755	.	83;128;128;134	Q00987-9;Q00987;Q8NDW2;Q00987-11	.;MDM2_HUMAN;.;.	D	134;83;128;89;128;128;159;103	ENSP00000417281:H134D;ENSP00000444430:H128D;ENSP00000266624:H103D	.	H	+	1	0	MDM2	67504451	0.104000	0.21937	0.032000	0.17829	0.219000	0.24729	1.031000	0.30165	0.833000	0.34828	0.585000	0.79938	CAC		TCGA-HZ-A49I-01A-12D-A26I-08	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	1	0	1	44	247	0	46	0	9.652173e-01	0	33	0	46	2		0	0	0	0	0	2	1	1.000000	44	247	0	46	2								-3.326894	1	1	0	0		1	1	2	3	2.249255	1	0.350000	1.860000	0.408957	0.990000	0.720000	1.000000	1.000000	0.942601	0.990000	1	0.840000	1.000000
GPR183	1880	broad.mit.edu	37	13	99947840	99947840	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:99947840A>G	ENST00000376414.4	-	2	643	c.560T>C	c.(559-561)tTt>tCt	p.F187S	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183			23					AGTTTCTTCAAAGTTTGGATA	0.413000																								0							SO:0001583	missense			ENST00000376414.4	1	1	hg19	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213653	0.79352	.	.	ENSG00000169508	ENST00000376414	T	0.38401	1.14	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.053527	0.85682	D	0.000000	T	0.54111	0.1838	L	0.51422	1.61	0.58432	D	0.999999	D	0.76494	0.999	D	0.73380	0.98	T	0.50189	-0.8857	9	.	.	.	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	187	P32249	GP183_HUMAN	S	187	ENSP00000365596:F187S	.	F	-	2	0	GPR183	98745841	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.962000	0.93254	2.191000	0.70037	0.533000	0.62120	TTT		TCGA-HZ-A49I-01A-12D-A26I-08	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	1	0	1	88	416	0	125	0	9.999917e-01	0	81	0	125	2		0	0	0	0	0	2	1	1.000000	88	413	0	124	2								-20.000000	1	1	0	0		1	1	2	3	2.053284	0	0.350000	1.860000	0.351136	0.990000	0.810000	1.000000	1.000000	0.963024	0.990000	1	0.900000	1.000000
DHRS4	10901	broad.mit.edu	37	14	24429127	24429127	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:24429127G>T	ENST00000313250.5	+	3	526	c.323G>T	c.(322-324)gGa>gTa	p.G108V	DHRS4_ENST00000397075.3_Missense_Mutation_p.G108V|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000382761.3_Missense_Mutation_p.G90V|DHRS4_ENST00000558263.1_Missense_Mutation_p.G108V|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.G108V|DHRS4_ENST00000308178.8_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4			14				Vitamin A(DB00162)	AAGCTTCATGGAGGTATCGAT	0.478000																								0							SO:0001583	missense			ENST00000313250.5	1	0	hg19	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	14.94	2.686814	0.48097	.	.	ENSG00000157326	ENST00000313250;ENST00000382761;ENST00000397075;ENST00000543741	T;T;D;T	0.89617	1.12;1.12;-2.54;1.12	2.87	1.93	0.25924	NAD(P)-binding domain (1);	0.111999	0.64402	D	0.000011	D	0.94892	0.8349	H	0.95260	3.645	0.80722	D	1	D;D;P;D	0.89917	0.983;1.0;0.906;0.995	P;D;P;D	0.79108	0.809;0.992;0.624;0.964	D	0.93034	0.6451	10	0.87932	D	0	.	6.9126	0.24342	0.1546:0.0:0.8454:0.0	.	108;108;108;108	F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2	.;.;.;DHRS4_HUMAN	V	108;90;108;108	ENSP00000326219:G108V;ENSP00000372209:G90V;ENSP00000380265:G108V;ENSP00000440508:G108V	ENSP00000326219:G108V	G	+	2	0	DHRS4	23498967	1.000000	0.71417	0.375000	0.26029	0.848000	0.48234	6.768000	0.74980	0.494000	0.27859	0.484000	0.47621	GGA		TCGA-HZ-A49I-01A-12D-A26I-08	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3	1	0	0	304	1662	1	731	0	7.905803e-01	1	17	1	731	2		0	0	0	0	0	2	1	1.000000	302	1620	1	776	11								-20.000000	1	1	0	0		1	0	0	0	2.036303	0	0.350000	1.860000	0.345418	0.870000	0.780000	0.970000	0.880000	0.878457	0.870000	1	0.820000	0.920000
DHRS4L2	317749	broad.mit.edu	37	14	24464257	24464257	+	Missense_Mutation	SNP	G	G	T	rs148508271	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:24464257G>T	ENST00000335125.6	+	3	449	c.323G>T	c.(322-324)gGa>gTa	p.G108V	DHRS4L2_ENST00000534993.1_Missense_Mutation_p.G7V|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.G108V|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.G108V|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.G106V|DHRS4L2_ENST00000543805.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2			10					AAGCTTCATGGAGGTATCGAT	0.493000																								0							SO:0001583	missense			ENST00000335125.6	1	0	hg19	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	17.18	3.323563	0.60634	.	.	ENSG00000187630	ENST00000534993;ENST00000397071;ENST00000335125;ENST00000545240;ENST00000382755	D;T;T;T	0.89617	-2.54;-0.02;1.12;1.12	4.37	3.46	0.39613	NAD(P)-binding domain (1);	0.112267	0.64402	D	0.000011	D	0.95143	0.8426	H	0.94462	3.54	0.39857	D	0.973325	D	0.64830	0.994	D	0.73708	0.981	D	0.94913	0.8066	10	0.87932	D	0	.	9.2784	0.37714	0.1119:0.0:0.8881:0.0	.	106	Q6PKH6	DR4L2_HUMAN	V	7;108;108;108;106	ENSP00000380261:G108V;ENSP00000334801:G108V;ENSP00000437883:G108V;ENSP00000372203:G106V	ENSP00000334801:G108V	G	+	2	0	DHRS4L2	23534097	1.000000	0.71417	0.125000	0.21846	0.175000	0.22909	6.775000	0.75018	0.796000	0.33947	0.398000	0.26397	GGA		TCGA-HZ-A49I-01A-12D-A26I-08	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4	1	0	0	159	4069	0	1714	0	5.278142e-02	0	10	0	1714	2		0	0	0	0	0	2	1	1.000000	145	3915	0	1764	2								-4.564867	1	1	0	0		1	0	0	0	2.036303	0	0.350000	1.860000	0.345418	0.200000	0.170000	0.250000	0.210000	0.214540	0.200000	0	0.190000	0.230000
SERPINA6	866	broad.mit.edu	37	14	94780770	94780770	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:94780770C>T	ENST00000341584.3	-	2	362	c.216G>A	c.(214-216)atG>atA	p.M72I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6			26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TAGCTAAGGCCATGGAGATGC	0.547000																								0							SO:0001583	missense			ENST00000341584.3	1	1	hg19	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	C	8.748	0.920648	0.17982	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.87103	-2.21;-1.55	5.07	-2.48	0.06423	Serpin domain (3);	0.436617	0.21388	N	0.075360	T	0.72961	0.3526	L	0.38649	1.16	0.27668	N	0.946854	B	0.10296	0.003	B	0.14023	0.01	T	0.57551	-0.7792	10	0.09590	T	0.72	.	5.0497	0.14501	0.4235:0.254:0.0:0.3226	.	72	P08185	CBG_HUMAN	I	72	ENSP00000342850:M72I;ENSP00000452018:M72I	ENSP00000342850:M72I	M	-	3	0	SERPINA6	93850523	0.158000	0.22850	0.484000	0.27391	0.982000	0.71751	-0.421000	0.07053	-0.761000	0.04670	0.563000	0.77884	ATG		TCGA-HZ-A49I-01A-12D-A26I-08	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	1	0	1	61	257	0	112	0	2.506738e-01	0	5	0	112	2		0	0	0	0	0	2	1	1.000000	61	256	0	111	2								-20.000000	1	1	0	0		1	0	0	0	2.036303	0	0.350000	1.860000	0.345418	0.990000	0.850000	1.000000	1.000000	0.984377	0.990000	1	0.960000	1.000000
NLRC3	197358	broad.mit.edu	37	16	3607671	3607671	+	RNA	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:3607671C>T	ENST00000301749.7	-	0	2427				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3			34					TCTGGTTCTCCGCCAAGCTGC	0.527000																								0											ENST00000301749.7	1	0	hg19																																																																																					TCGA-HZ-A49I-01A-12D-A26I-08	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		1	0	1	20	110	0	71	0	2.631579e-02	0	2	0	71	2		0	0	0	0	0	2	1	0.999997	20	109	0	70	2								-2.968520	1	1	120956	3	32	1	0	0	0	2.036081	0	0.350000	1.860000	0.345418	0.870000	0.560000	1.000000	1.000000	0.859079	0.870000	1	0.700000	1.000000
CASKIN2	57513	broad.mit.edu	37	17	73497867	73497867	+	Silent	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:73497867G>T	ENST00000321617.3	-	18	3874	c.3288C>A	c.(3286-3288)ccC>ccA	p.P1096P	CASKIN2_ENST00000433559.2_Silent_p.P1014P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2			18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		TACCTGCTCCGGGCACCTTGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000321617.3	1	1	hg19	CCDS11723.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	0	0	0	15	707	0	295	1	4.586077e-01	2	69	0	295	2		0	0	0	0	0	2	1	0.999855	15	696	0	293	2								-2.368556	0	1	0	0		1	0	1	1	2.045126	0	0.350000	1.860000	0.348861	0.110000	0.060000	0.190000	0.120000	0.125736	0.110000	0	0.080000	0.160000
TP53	7157	broad.mit.edu	37	17	7577544	7577544	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:7577544A>C	ENST00000269305.4	-	7	926	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_ENST00000445888.2_Missense_Mutation_p.M246R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.M246R|TP53_ENST00000420246.2_Missense_Mutation_p.M246R|TP53_ENST00000359597.4_Missense_Mutation_p.M246R|TP53_ENST00000413465.2_Missense_Mutation_p.M246R	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.M246R(10)|p.M246T(9)|p.0?(8)|p.M246K(7)|p.?(5)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.M153T(1)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CCTCCGGTTCATGCCGCCCAT	0.572000		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	47	Substitution - Missense(27)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)|Deletion - In frame(3)						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	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177746	0.78564	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;0.96;1.0;1.0;0.998	D	0.97237	0.9888	10	0.87932	D	0	-28.5667	12.3101	0.54924	1.0:0.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	R	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246R;ENSP00000352610:M246R;ENSP00000269305:M246R;ENSP00000398846:M246R;ENSP00000391127:M246R;ENSP00000391478:M246R;ENSP00000425104:M114R;ENSP00000423862:M153R	ENSP00000269305:M246R	M	-	2	0	TP53	7518269	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATG		TCGA-HZ-A49I-01A-12D-A26I-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	38	217	0	148	1	9.999051e-01	44	39	0	148	2	1	1	52	347	0	1075	2	1	1.000000	38	214	0	148	2								-20.000000	1	1	0	0		1	0	1	1	1.699086	1	0.350000	1.860000	0.212121	0.690000	0.500000	0.900000	0.690000	0.703616	0.690000	0	0.590000	0.800000
TCF4	6925	broad.mit.edu	37	18	52924608	52924608	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:52924608A>G	ENST00000356073.4	-	14	1695	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	TCF4_ENST00000398339.1_Missense_Mutation_p.W464R|TCF4_ENST00000564999.1_Missense_Mutation_p.W362R|TCF4_ENST00000564403.2_Missense_Mutation_p.W368R|TCF4_ENST00000567880.1_Missense_Mutation_p.W302R|TCF4_ENST00000568740.1_Missense_Mutation_p.W337R|TCF4_ENST00000561831.3_Missense_Mutation_p.W202R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566286.1_Missense_Mutation_p.W359R|TCF4_ENST00000561992.1_Missense_Mutation_p.W232R|TCF4_ENST00000537578.1_Missense_Mutation_p.W338R|TCF4_ENST00000570287.2_Missense_Mutation_p.W202R|TCF4_ENST00000565018.2_Missense_Mutation_p.W362R|TCF4_ENST00000540999.1_Missense_Mutation_p.W338R|TCF4_ENST00000570177.2_Missense_Mutation_p.W232R|TCF4_ENST00000457482.3_Missense_Mutation_p.W202R|TCF4_ENST00000543082.1_Missense_Mutation_p.W320R|TCF4_ENST00000537856.3_Missense_Mutation_p.W232R|TCF4_ENST00000568673.1_Missense_Mutation_p.W338R|TCF4_ENST00000544241.2_Missense_Mutation_p.W291R|TCF4_ENST00000564228.1_Missense_Mutation_p.W291R|TCF4_ENST00000566279.1_Missense_Mutation_p.W302R|TCF4_ENST00000354452.3_Missense_Mutation_p.W362R	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4			41					TTTCTAGACCAAACAGCTGTG	0.408000																								0							SO:0001583	missense			ENST00000356073.4	1	1	hg19	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446962	0.84101	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;0.999	D	0.84986	0.0891	10	0.72032	D	0.01	-8.4202	15.2952	0.73898	1.0:0.0:0.0:0.0	.	338;362;202;464;362;320;291;202;359	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	R	362;202;362;320;338;338;291;232;464	ENSP00000346440:W362R;ENSP00000409447:W202R;ENSP00000348374:W362R;ENSP00000439656:W320R;ENSP00000445202:W338R;ENSP00000440731:W338R;ENSP00000441562:W291R;ENSP00000439827:W232R;ENSP00000381382:W464R	ENSP00000346440:W362R	W	-	1	0	TCF4	51075606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.685000	0.91246	2.246000	0.74042	0.533000	0.62120	TGG		TCGA-HZ-A49I-01A-12D-A26I-08	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	0	0	0	16	611	0	228	0	2.960845e-02	0	10	0	228	2		0	0	0	0	0	2	1	0.999927	16	604	0	228	2								-13.437080	1	1	0	0		1	0	1	1	1.695842	1	0.350000	1.860000	0.213789	0.110000	0.060000	0.190000	0.120000	0.126932	0.110000	0	0.090000	0.160000
ZNF532	55205	broad.mit.edu	37	18	56585592	56585592	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:56585592G>A	ENST00000336078.4	+	4	849	c.73G>A	c.(73-75)Gat>Aat	p.D25N	ZNF532_ENST00000591230.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591808.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591083.1_Missense_Mutation_p.D25N|ZNF532_ENST00000589288.1_Missense_Mutation_p.D25N	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532			52					AGATATGGTCGATCCTAAAGC	0.468000																								0							SO:0001583	missense			ENST00000336078.4	1	1	hg19	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584685	0.96578	.	.	ENSG00000074657	ENST00000336078	T	0.07688	3.17	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07424	-1.0773	10	0.87932	D	0	-18.7627	18.9367	0.92589	0.0:0.0:1.0:0.0	.	25	Q9HCE3	ZN532_HUMAN	N	25	ENSP00000338217:D25N	ENSP00000338217:D25N	D	+	1	0	ZNF532	54736572	1.000000	0.71417	0.986000	0.45419	0.908000	0.53690	9.403000	0.97302	2.560000	0.86352	0.555000	0.69702	GAT		TCGA-HZ-A49I-01A-12D-A26I-08	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	1	0	1	70	283	0	148	0	7.204050e-01	1	11	0	148	2		0	0	0	0	0	2	1	1.000000	71	282	0	148	2								-20.000000	1	1	0	0		1	0	1	1	1.695842	1	0.350000	1.860000	0.213789	0.900000	0.730000	1.000000	1.000000	0.897426	0.900000	1	0.810000	0.970000
FAM129C	199786	broad.mit.edu	37	19	17660273	17660273	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:17660273G>T	ENST00000335393.4	+	15	1918	c.1780G>T	c.(1780-1782)Gcc>Tcc	p.A594S	FAM129C_ENST00000595684.1_Missense_Mutation_p.A594S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A594S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A563S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A563S|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000352727.3_Missense_Mutation_p.A558S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A527S|FAM129C_ENST00000449408.2_Missense_Mutation_p.A320S	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C			33					GACCCTTGGTGCCAATGATGT	0.527000																								0							SO:0001583	missense			ENST00000335393.4	1	1	hg19	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719856	0.30503	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000449408	T;T;T;T	0.46819	1.8;1.82;0.86;1.43	2.87	0.639	0.17747	.	0.762112	0.11046	N	0.605581	T	0.38904	0.1058	M	0.63428	1.95	0.09310	N	1	P;P;P;P	0.36909	0.573;0.573;0.573;0.573	B;B;B;B	0.38378	0.272;0.272;0.272;0.272	T	0.25187	-1.0139	10	0.11182	T	0.66	-4.5539	5.3444	0.16000	0.2787:0.0:0.7213:0.0	.	594;594;558;594	Q86XR2;Q86XR2-3;Q86XR2-4;Q86XR2-2	NIBL2_HUMAN;.;.;.	S	594;594;558;320	ENSP00000335040:A594S;ENSP00000333447:A594S;ENSP00000341067:A558S;ENSP00000394929:A320S	ENSP00000333447:A594S	A	+	1	0	FAM129C	17521273	0.005000	0.15991	0.002000	0.10522	0.082000	0.17680	0.151000	0.16283	0.270000	0.21984	0.557000	0.71058	GCC		TCGA-HZ-A49I-01A-12D-A26I-08	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	1	0	1	106	721	0	295	0	1.675438e-02	0	2	0	295	2		0	0	0	0	0	2	1	1.000000	105	719	0	294	2								-20.000000	1	0	0	0		1	1	2	3	2.052791	0	0.350000	1.860000	0.351136	0.730000	0.600000	0.870000	0.740000	0.737190	0.730000	0	0.660000	0.800000
NLRP2	55655	broad.mit.edu	37	19	55501388	55501388	+	Splice_Site	SNP	A	A	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:55501388A>G	ENST00000543010.1	+	9	2509		c.e9-1		NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site|NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2			11			BRCA - Breast invasive adenocarcinoma(297;0.163)		TTTCTCCCACAGGTTGGTGTC	0.517000																								0							SO:0001630	splice_region_variant			ENST00000543010.1	1	1	hg19	CCDS12913.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	a	8.379	0.836995	0.16891	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	2.51	2.51	0.30379	.	.	.	.	.	.	.	.	.	.	.	0.37549	D	0.918615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9916	0.24758	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP2	60193200	0.776000	0.28616	0.108000	0.21378	0.127000	0.20565	3.149000	0.50655	1.407000	0.46875	0.529000	0.55759	.		TCGA-HZ-A49I-01A-12D-A26I-08	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	0	0	1	55	295	1	166		0	0	0	1	166	2		0	0	0	0	0	2	1	1.000000	51	284	1	162	9								-20.000000	1	1	121412	4	36	1	0	1	1	1.727474	1	0.350000	1.860000	0.220390	0.740000	0.570000	0.920000	0.740000	0.749823	0.740000	0	0.650000	0.840000
CLEC4G	339390	broad.mit.edu	37	19	7796974	7796974	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:7796974C>T	ENST00000328853.5	-	1	83	c.15G>A	c.(13-15)agG>agA	p.R5R	CLEC4G_ENST00000598081.1_Splice_Site	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G			6					ACTTGCTGTACCTGGTGGTGT	0.612000													Esophageal Squamous(146;540 1807 3349 19438 30853)											0							SO:0001819	synonymous_variant			ENST00000328853.5	1	0	hg19	CCDS12185.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	1	0	1	49	256	0	140	0	0	0	1	0	140	2		0	0	0	0	0	2	1	1.000000	49	256	0	140	2								-20.000000	1	1	121412	5	34	1	1	2	3	2.052791	0	0.350000	1.860000	0.351136	0.910000	0.690000	1.000000	1.000000	0.906038	0.910000	1	0.800000	1.000000
ADORA3	140	broad.mit.edu	37	1	112046027	112046027	+	Translation_Start_Site	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:112046027G>A	ENST00000241356.4	-	0	355				ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_De_novo_Start_OutOfFrame|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor			12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	AGCAAGATCCGTCTGTAGGGC	0.542000																								0											ENST00000241356.4	0	1	hg19	CCDS839.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	0	0	0	11	50	0	19	0	3.859287e-01	0	7	0	19	2		0	0	0	0	0	2	1	0.998737	11	50	0	19	2								-3.620766	1	1	120666	6	34	1	1	2	3	2.052343	0	0.350000	1.860000	0.351136	0.990000	0.570000	1.000000	1.000000	0.919731	0.990000	1	0.780000	1.000000
SEMA4A	64218	broad.mit.edu	37	1	156128241	156128241	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:156128241C>T	ENST00000368285.3	+	5	693	c.426C>T	c.(424-426)tgC>tgT	p.C142C	SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000355014.2_Silent_p.C142C|SEMA4A_ENST00000368282.1_Silent_p.C142C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A			5	Hepatocellular(266;0.158)				TCTACACCTGCGGCACCTTCG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000368285.3	1	1	hg19	CCDS1132.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	1	0	0	149	788	0	267	0	4.328970e-01	0	9	0	267	2		0	0	0	0	0	2	1	1.000000	146	775	0	266	2								-20.000000	1	1	121412	4	44	1	0	0	0	2.034416	0	0.350000	1.860000	0.345418	0.890000	0.760000	1.000000	1.000000	0.901840	0.890000	1	0.830000	0.970000
HSPA6	3310	broad.mit.edu	37	1	161495096	161495096	+	Silent	SNP	T	T	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:161495096T>G	ENST00000309758.4	+	1	1061	c.648T>G	c.(646-648)gcT>gcG	p.A216A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	p.A216A(1)		21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		CCATTGACGCTGGTGTCTTTG	0.597000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000309758.4	1	1	hg19	CCDS1231.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	1	0	1	31	227	0	116	0	3.060620e-01	0	9	0	116	2		0	0	0	0	0	2	1	1.000000	29	227	0	115	2								-3.142893	1	1	0	0		1	0	0	0	2.034416	0	0.350000	1.860000	0.345418	0.680000	0.470000	0.910000	0.680000	0.692930	0.680000	0	0.570000	0.800000
ZBTB17	7709	broad.mit.edu	37	1	16269204	16269204	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:16269204C>A	ENST00000375743.4	-	14	2090	c.1858G>T	c.(1858-1860)Ggg>Tgg	p.G620W	ZBTB17_ENST00000537142.1_Missense_Mutation_p.G538W|ZBTB17_ENST00000375733.2_Missense_Mutation_p.G620W	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17			15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)			AAGCCACGCCCACACTTATCA	0.612000																								0							SO:0001583	missense			ENST00000375743.4	1	1	hg19	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.210920|4.210920	0.79240|0.79240	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729|ENST00000440560	T;T;T|.	0.02525|.	4.26;4.26;4.26|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85775|0.85775	0.5775|0.5775	M|M	0.93462|0.93462	3.42|3.42	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.997;0.999|.	D|D	0.89151|0.89151	0.3523|0.3523	10|5	0.87932|.	D|.	0|.	.|.	14.9728|14.9728	0.71246|0.71246	0.0:0.8577:0.1423:0.0|0.0:0.8577:0.1423:0.0	.|.	620;538;620|.	Q13105-2;F5H411;Q13105|.	.;.;ZBT17_HUMAN|.	W|L	620;620;539;538;176|19	ENSP00000364895:G620W;ENSP00000364885:G620W;ENSP00000438529:G538W|.	ENSP00000364881:G176W|.	G|W	-|-	1|2	0|0	ZBTB17|ZBTB17	16141791|16141791	0.999000|0.999000	0.42202|0.42202	0.890000|0.890000	0.34922|0.34922	0.996000|0.996000	0.88848|0.88848	4.586000|4.586000	0.60984|0.60984	2.579000|2.579000	0.87056|0.87056	0.563000|0.563000	0.77884|0.77884	GGG|TGG		TCGA-HZ-A49I-01A-12D-A26I-08	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	1	0	1	25	214	0	91	1	9.604565e-01	8	40	0	91	2		0	0	0	0	0	2	1	1.000000	25	212	0	91	2								-2.841694	1	1	0	0		1	1	2	3	2.058303	0	0.350000	1.860000	0.351136	0.600000	0.400000	0.850000	0.600000	0.612745	0.600000	0	0.490000	0.730000
CEP350	9857	broad.mit.edu	37	1	180063129	180063129	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:180063129G>A	ENST00000367607.3	+	34	8307	c.7889G>A	c.(7888-7890)aGt>aAt	p.S2630N	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	p.S2630I(2)		66					GTTAATAGAAGTAGAAGCCTT	0.388000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000367607.3	1	1	hg19	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.521005	0.00967	.	.	ENSG00000135837	ENST00000367607;ENST00000417046	T	0.59083	0.29	2.15	0.983	0.19767	.	.	.	.	.	T	0.41282	0.1152	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23084	-1.0198	8	.	.	.	.	5.4385	0.16494	0.6897:0.0:0.3103:0.0	.	2630;2630	E7EU22;Q5VT06	.;CE350_HUMAN	N	2630;94	ENSP00000356579:S2630N	.	S	+	2	0	CEP350	178329752	0.000000	0.05858	0.551000	0.28230	0.817000	0.46193	0.141000	0.16076	0.258000	0.21686	-0.383000	0.06682	AGT		TCGA-HZ-A49I-01A-12D-A26I-08	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	0	0	0	8	215	0	79	0	5.089151e-02	0	9	0	79	2		0	0	0	0	0	2	1	0.989749	8	215	0	79	2								-9.941549	1	1	0	0		1	0	0	0	2.041305	0	0.350000	1.860000	0.347717	0.210000	0.090000	0.380000	0.200000	0.225865	0.210000	0	0.140000	0.300000
CR2	1380	broad.mit.edu	37	1	207647654	207647654	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:207647654T>A	ENST00000367058.3	+	12	2321	c.2132T>A	c.(2131-2133)aTt>aAt	p.I711N	CR2_ENST00000458541.2_Missense_Mutation_p.I684N|CR2_ENST00000367057.3_Missense_Mutation_p.I770N|CR2_ENST00000367059.3_Missense_Mutation_p.I711N	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2			69					TTCAAAAAGATTCCACTTTGT	0.388000																								0							SO:0001583	missense			ENST00000367058.3	1	1	hg19	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.622221	0.28889	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.66	0.325	0.15903	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.62392	0.2424	M	0.69823	2.125	0.09310	N	0.999998	P;P;P	0.48294	0.87;0.908;0.565	P;P;P	0.53006	0.632;0.715;0.568	T	0.51236	-0.8731	9	0.17832	T	0.49	.	2.5985	0.04860	0.1401:0.0791:0.2912:0.4896	.	711;711;770	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	N	711;770;711;684	ENSP00000356025:I711N;ENSP00000356024:I770N;ENSP00000356026:I711N;ENSP00000404222:I684N	ENSP00000356024:I770N	I	+	2	0	CR2	205714277	0.840000	0.29493	0.001000	0.08648	0.112000	0.19704	-0.039000	0.12124	-0.193000	0.10415	-0.336000	0.08194	ATT		TCGA-HZ-A49I-01A-12D-A26I-08	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	0	0	0	18	520	0	158	0	3.895860e-02	0	9	0	158	2		0	0	0	0	0	2	1	0.999982	19	519	0	158	2								-16.544230	1	1	0	0		1	0	0	0	2.041305	0	0.350000	1.860000	0.347717	0.190000	0.110000	0.290000	0.190000	0.199659	0.190000	0	0.140000	0.240000
CR1L	1379	broad.mit.edu	37	1	207867914	207867914	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:207867914C>G	ENST00000508064.2	+	5	740	c.680C>G	c.(679-681)cCt>cGt	p.P227R	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like			22					TGCATTATACCTAACAAATGC	0.448000																								0							SO:0001583	missense			ENST00000508064.2	1	1	hg19	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	7.803	0.714144	0.15306	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.35605	1.3	2.38	-0.917	0.10485	.	.	.	.	.	T	0.24890	0.0604	L	0.35644	1.08	0.09310	N	1	P	0.38800	0.648	B	0.39419	0.299	T	0.15780	-1.0425	9	0.35671	T	0.21	.	4.9771	0.14146	0.0:0.4127:0.0:0.5873	.	227	Q2VPA4	CR1L_HUMAN	R	227	ENSP00000421736:P227R	ENSP00000434864:P171R	P	+	2	0	CR1L	205934537	0.001000	0.12720	0.032000	0.17829	0.207000	0.24258	0.336000	0.19823	-0.069000	0.12931	0.298000	0.19748	CCT		TCGA-HZ-A49I-01A-12D-A26I-08	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	1	0	1	265	1154	0	506		0	0	0	0	506	2		0	0	0	0	0	2	1	1.000000	246	1092	0	538	2								-2.794973	1	1	0	0		1	0	0	0	2.037921	0	0.350000	1.860000	0.345418	0.990000	0.940000	1.000000	1.000000	0.995541	0.990000	1	0.990000	1.000000
EPHA8	2046	broad.mit.edu	37	1	22928191	22928191	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:22928191G>A	ENST00000166244.3	+	17	3047	c.2975G>A	c.(2974-2976)cGg>cAg	p.R992Q		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)			CAGACCATGCGGGCCCAGCTG	0.682000																								0							SO:0001583	missense			ENST00000166244.3	1	1	hg19	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928399	0.92389	0.0	2.34E-4	ENSG00000070886	ENST00000166244	T	0.52983	0.64	5.23	5.23	0.72850	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.64182	0.2575	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61422	-0.7066	10	0.42905	T	0.14	.	16.319	0.82939	0.0:0.0:1.0:0.0	.	992	P29322	EPHA8_HUMAN	Q	992	ENSP00000166244:R992Q	ENSP00000166244:R992Q	R	+	2	0	EPHA8	22800778	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.524000	0.73791	2.722000	0.93159	0.491000	0.48974	CGG		TCGA-HZ-A49I-01A-12D-A26I-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1	6	38	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	0.968676	6	38	0	22	2								-12.665530	1	1	119470	13	42	1	0	0	0	2.043636	0	0.350000	1.860000	0.347717	0.790000	0.340000	1.000000	1.000000	0.777507	0.790000	0	0.540000	1.000000
OR2M7	391196	broad.mit.edu	37	1	248487356	248487356	+	Missense_Mutation	SNP	C	C	T	rs145948434		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:248487356C>T	ENST00000317965.2	-	1	543	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	p.R172L(1)|p.R172Q(1)		42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)		GGCTATTTCCCGAGACCCACA	0.433000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000317965.2	1	1	hg19	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199628	0.22121	.	.	ENSG00000177186	ENST00000317965	T	0.00044	8.83	1.54	0.552	0.17230	GPCR, rhodopsin-like superfamily (1);	0.295108	0.18339	U	0.144258	T	0.00109	0.0003	L	0.43701	1.375	0.09310	N	1	B	0.31519	0.327	B	0.32583	0.148	T	0.21965	-1.0230	10	0.52906	T	0.07	.	3.5068	0.07693	0.0:0.4143:0.0:0.5857	.	172	Q8NG81	OR2M7_HUMAN	Q	172	ENSP00000324557:R172Q	ENSP00000324557:R172Q	R	-	2	0	OR2M7	246553979	0.002000	0.14202	0.390000	0.26220	0.131000	0.20780	0.708000	0.25719	0.845000	0.35118	0.184000	0.17185	CGG		TCGA-HZ-A49I-01A-12D-A26I-08	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	1	0	1	314	1493	0	518		0	0	0	0	518	2		0	0	0	0	0	2	1	1.000000	312	1449	0	533	2								-2.136597	0	1	121412	4	42	1	0	0	0	2.037921	0	0.350000	1.860000	0.345418	0.980000	0.880000	1.000000	1.000000	0.972423	0.980000	1	0.930000	1.000000
ZC3H12A	80149	broad.mit.edu	37	1	37947235	37947235	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:37947235A>T	ENST00000373087.6	+	4	733	c.617A>T	c.(616-618)aAg>aTg	p.K206M		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A	p.K206R(1)		21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			GAGAAGAAGAAGATCCTGGTG	0.607000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000373087.6	1	1	hg19	CCDS417.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.957246	0.92726	0.0	1.16E-4	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.45668	0.89	5.42	5.42	0.78866	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64871	-0.6305	10	0.62326	D	0.03	-37.7323	15.4665	0.75406	1.0:0.0:0.0:0.0	.	206	Q5D1E8	ZC12A_HUMAN	M	206	ENSP00000362179:K206M	ENSP00000362174:K206M	K	+	2	0	ZC3H12A	37719822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.267000	0.65530	2.054000	0.61138	0.459000	0.35465	AAG		TCGA-HZ-A49I-01A-12D-A26I-08	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	1	0	1	72	398	0	222	1	9.999026e-01	22	54	0	222	2		0	0	0	0	0	2	1	1.000000	67	404	0	224	2								-20.000000	1	0	121412	9	46	1	1	2	3	2.052343	0	0.350000	1.860000	0.351136	0.870000	0.690000	1.000000	1.000000	0.876360	0.870000	1	0.780000	0.980000
MACF1	23499	broad.mit.edu	37	1	39950371	39950371	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:39950371G>A	ENST00000372915.3	+	96	21966	c.21879G>A	c.(21877-21879)ccG>ccA	p.P7293P	MACF1_ENST00000564288.1_Silent_p.P7460P|MACF1_ENST00000289893.4_Silent_p.P5843P|MACF1_ENST00000361689.2_Silent_p.P5335P|MACF1_ENST00000539005.1_Silent_p.P5205P|MACF1_ENST00000567887.1_Silent_p.P7497P|MACF1_ENST00000317713.7_Silent_p.P5335P|MACF1_ENST00000545844.1_Silent_p.P5335P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		GTTCTTCCCCGGCCTCCACAG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000372915.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.331374|1.331374	0.24167|0.24167	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000360115;ENST00000442046	.|.	.|.	.|.	6.03|6.03	-2.55|-2.55	0.06288|0.06288	.|.	.|.	.|.	.|.	.|.	T|T	0.39655|0.39655	0.1086|0.1086	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30357|0.30357	-0.9981|-0.9981	4|4	.|.	.|.	.|.	.|.	2.3493|2.3493	0.04280|0.04280	0.2315:0.3717:0.2762:0.1206|0.2315:0.3717:0.2762:0.1206	.|.	.|.	.|.	.|.	S|Q	4339;360|448;273	.|.	.|.	G|R	+|+	1|2	0|0	MACF1|MACF1	39722958|39722958	0.005000|0.005000	0.15991|0.15991	0.992000|0.992000	0.48379|0.48379	0.996000|0.996000	0.88848|0.88848	-1.287000|-1.287000	0.02785|0.02785	-0.376000|-0.376000	0.07943|0.07943	-0.290000|-0.290000	0.09829|0.09829	GGC|CGG		TCGA-HZ-A49I-01A-12D-A26I-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	1	0	1	106	565	0	288	1	1	93	264	0	288	2	1	1	45	274	1	714	4	1	1.000000	108	561	0	287	2								-2.922118	1	1	121412	3	37	1	1	2	3	2.052343	0	0.350000	1.860000	0.351136	0.900000	0.740000	1.000000	1.000000	0.902089	0.900000	1	0.820000	0.990000
COL24A1	255631	broad.mit.edu	37	1	86372901	86372901	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:86372901C>T	ENST00000370571.2	-	28	3120	c.2754G>A	c.(2752-2754)ggG>ggA	p.G918G	COL24A1_ENST00000436319.1_Silent_p.G918G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1			101					GACCTTGACTCCCAGGTGGTC	0.348000																								0							SO:0001819	synonymous_variant			ENST00000370571.2	1	1	hg19	CCDS41353.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	1	0	1	71	452	0	115	0	0	0	1	0	115	2		0	0	0	0	0	2	1	1.000000	69	448	0	114	2								-3.318825	1	1	0	0		1	1	2	3	2.052343	0	0.350000	1.860000	0.351136	0.770000	0.610000	0.960000	0.780000	0.782004	0.770000	0	0.690000	0.870000
KIAA1755	85449	broad.mit.edu	37	20	36855620	36855620	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:36855620C>T	ENST00000279024.4	-	7	2259	c.1988G>A	c.(1987-1989)cGg>cAg	p.R663Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755			54		Myeloproliferative disorder(115;0.00874)			GAGAATAGCCCGGATAGAGGC	0.572000																								0							SO:0001583	missense			ENST00000279024.4	1	1	hg19	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474685	0.26511	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.61158	0.13;1.2	4.53	0.919	0.19392	.	0.986535	0.08237	N	0.976570	T	0.36552	0.0971	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.21211	-1.0252	10	0.19590	T	0.45	.	6.2707	0.20953	0.0:0.4404:0.0:0.5596	.	663	Q5JYT7	K1755_HUMAN	Q	663;210;1	ENSP00000279024:R663Q;ENSP00000393503:R1Q	ENSP00000279024:R663Q	R	-	2	0	KIAA1755	36289034	0.204000	0.23447	0.000000	0.03702	0.000000	0.00434	1.432000	0.34936	0.215000	0.20761	-0.808000	0.03180	CGG		TCGA-HZ-A49I-01A-12D-A26I-08	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	1	0	1	21	139	0	87	0	7.590005e-01	0	20	0	87	2		0	0	0	0	0	2	1	0.999998	21	137	0	86	2								-3.081980	1	1	121412	4	31	1	0	0	0	2.017515	0	0.350000	1.860000	0.338422	0.730000	0.480000	1.000000	1.000000	0.748828	0.730000	0	0.590000	0.900000
KIAA1755	85449	broad.mit.edu	37	20	36859706	36859706	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:36859706C>T	ENST00000279024.4	-	5	2040	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755			54		Myeloproliferative disorder(115;0.00874)			AAGCAGGGGCCGCCCGGCCCT	0.637000																								0							SO:0001583	missense			ENST00000279024.4	1	1	hg19	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812690	0.90707	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.68903	-0.36	4.97	4.02	0.46733	.	0.163457	0.27473	N	0.019219	T	0.79718	0.4494	M	0.90019	3.08	0.43579	D	0.995916	D	0.69078	0.997	P	0.54629	0.757	T	0.83267	-0.0045	10	0.54805	T	0.06	.	12.3865	0.55335	0.0:0.9191:0.0:0.0809	.	590	Q5JYT7	K1755_HUMAN	Q	590;137	ENSP00000279024:R590Q	ENSP00000279024:R590Q	R	-	2	0	KIAA1755	36293120	0.995000	0.38212	0.993000	0.49108	0.985000	0.73830	2.737000	0.47393	1.307000	0.44944	0.655000	0.94253	CGG		TCGA-HZ-A49I-01A-12D-A26I-08	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	1	0	1	23	86	0	41	0	9.724847e-01	0	25	0	41	2		0	0	0	0	0	2	1	1.000000	22	85	0	40	2								-20.000000	1	1	0	0		1	0	0	0	2.017515	0	0.350000	1.860000	0.338422	0.990000	0.790000	1.000000	1.000000	0.980805	0.990000	1	0.970000	1.000000
SON	6651	broad.mit.edu	37	21	34925124	34925124	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr21:34925124C>T	ENST00000356577.4	+	3	4062	c.3587C>T	c.(3586-3588)cCt>cTt	p.P1196L	SON_ENST00000290239.6_Missense_Mutation_p.P1196L|SON_ENST00000381679.4_Missense_Mutation_p.P1196L|SON_ENST00000300278.4_Missense_Mutation_p.P1196L|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein			72					AATACTTGGCCTACAGAGGTG	0.527000																								0							SO:0001583	missense			ENST00000356577.4	1	1	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840064	0.51057	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.12672	2.85;2.84;2.83;2.66	5.42	5.42	0.78866	.	0.627323	0.14275	N	0.329894	T	0.15522	0.0374	L	0.40543	1.245	0.19775	N	0.999954	P;P;B;P;P	0.49253	0.804;0.872;0.015;0.804;0.921	B;B;B;B;B	0.40864	0.288;0.139;0.014;0.288;0.342	T	0.10989	-1.0606	10	0.72032	D	0.01	.	16.7237	0.85416	0.0:1.0:0.0:0.0	.	1196;1196;877;1196;1196	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	L	1196	ENSP00000348984:P1196L;ENSP00000290239:P1196L;ENSP00000300278:P1196L;ENSP00000371095:P1196L	ENSP00000290239:P1196L	P	+	2	0	SON	33846994	0.862000	0.29867	0.893000	0.35052	0.752000	0.42762	3.035000	0.49759	2.549000	0.85964	0.563000	0.77884	CCT		TCGA-HZ-A49I-01A-12D-A26I-08	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	1	0	1	158	776	0	310	1	9.976298e-01	10	36	0	310	2		0	0	0	0	0	2	1	1.000000	158	774	0	307	2								-20.000000	1	1	0	0		1	0	1	1	2.047266	0	0.350000	1.860000	0.348861	0.950000	0.820000	1.000000	1.000000	0.952273	0.950000	1	0.890000	1.000000
BRWD1	54014	broad.mit.edu	37	21	40650700	40650700	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr21:40650700G>A	ENST00000333229.2	-	10	1299	c.972C>T	c.(970-972)ggC>ggT	p.G324G	BRWD1_ENST00000342449.3_Silent_p.G324G|BRWD1_ENST00000380800.3_Silent_p.G324G	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1			58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)			GCATTTGAACGCCTGGCCTAG	0.333000													Melanoma(170;988 1986 4794 16843 39731)											0							SO:0001819	synonymous_variant			ENST00000333229.2	1	1	hg19	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312047	0.23821	.	.	ENSG00000185658	ENST00000455867	.	.	.	5.1	-9.33	0.00639	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40478	-0.9561	4	.	.	.	.	1.5457	0.02564	0.4764:0.1997:0.1196:0.2044	.	.	.	.	C	36	.	.	R	-	1	0	BRWD1	39572570	0.000000	0.05858	0.822000	0.32727	0.997000	0.91878	-2.790000	0.00767	-1.651000	0.01504	0.591000	0.81541	CGT		TCGA-HZ-A49I-01A-12D-A26I-08	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	1	0	1	124	555	0	256		0	0	0	0	256	2		0	0	0	0	0	2	1	1.000000	121	548	0	256	2								-20.000000	1	1	121412	1	33	1	0	1	1	2.047266	0	0.350000	1.860000	0.348861	0.990000	0.870000	1.000000	1.000000	0.984150	0.990000	1	0.950000	1.000000
PARVB	29780	broad.mit.edu	37	22	44559738	44559738	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr22:44559738G>T	ENST00000338758.7	+	12	1009	c.946G>T	c.(946-948)Gtc>Ttc	p.V316F	PARVB_ENST00000404989.1_Splice_Site_p.V279F|PARVB_ENST00000406477.3_Splice_Site_p.V349F	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta			25		Ovarian(80;0.0246)|all_neural(38;0.0423)			TCCTTGGCAGGTCCACAATGT	0.622000																								0							SO:0001630	splice_region_variant			ENST00000338758.7	0	1	hg19	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744371	0.69418	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	D;D;D	0.95307	-3.67;-3.67;-3.67	5.42	3.34	0.38264	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.992	D	0.96302	0.9222	9	.	.	.	-1.022	9.6282	0.39763	0.1707:0.0:0.8293:0.0	.	316;279;316;349	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	F	349;316;279	ENSP00000384515:V349F;ENSP00000342492:V316F;ENSP00000384353:V279F	.	V	+	1	0	PARVB	42891071	1.000000	0.71417	0.993000	0.49108	0.614000	0.37383	7.331000	0.79192	0.662000	0.31006	0.491000	0.48974	GTC		TCGA-HZ-A49I-01A-12D-A26I-08	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	0	0	0	8	338	0	157	0	5.076672e-01	0	68	0	157	2		0	0	0	0	0	2	1	0.989575	8	338	0	156	2								-8.130326	1	1	0	0		1	0	1	1	2.047147	0	0.350000	1.860000	0.348861	0.130000	0.060000	0.250000	0.130000	0.146730	0.130000	0	0.090000	0.190000
LRP1B	53353	broad.mit.edu	37	2	141200116	141200116	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:141200116G>A	ENST00000389484.3	-	66	11342	c.10371C>T	c.(10369-10371)gaC>gaT	p.D3457D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			CTGGATCCTCGTCACAAACCC	0.463000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001819	synonymous_variant			ENST00000389484.3	1	1	hg19	CCDS2182.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1	81	431	0	162		0	0	0	0	162	2		0	0	0	0	0	2	1	1.000000	82	429	0	162	2								-20.000000	1	1	0	0		1	0	0	0	2.026445	0	0.350000	1.860000	0.340771	0.880000	0.710000	1.000000	1.000000	0.889275	0.880000	1	0.790000	0.980000
TTN	7273	broad.mit.edu	37	2	179583694	179583694	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:179583694G>T	ENST00000591111.1	-	82	23506	c.23282C>A	c.(23281-23283)cCa>cAa	p.P7761Q	TTN_ENST00000342992.6_Missense_Mutation_p.P6834Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P8078Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTCAAAAGATGGTGGTTCTAG	0.443000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.44	2.237650	0.39598	.	.	ENSG00000155657	ENST00000342992	T	0.81078	-1.45	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94241	0.8151	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95629	0.8688	9	0.87932	D	0	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	7761	Q8WZ42	TITIN_HUMAN	Q	6834	ENSP00000343764:P6834Q	ENSP00000343764:P6834Q	P	-	2	0	TTN	179291939	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.434000	0.97515	2.861000	0.98227	0.650000	0.86243	CCA		TCGA-HZ-A49I-01A-12D-A26I-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	1	9	82	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	0.994740	9	81	0	34	2								-15.347340	1	1	0	0		1	0	0	0	2.026445	0	0.350000	1.860000	0.340771	0.570000	0.280000	0.950000	0.550000	0.591315	0.570000	0	0.410000	0.760000
FANCD2	2177	broad.mit.edu	37	3	10106107	10106107	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:10106107C>T	ENST00000419585.1	+	22	2176	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	FANCD2_ENST00000287647.3_Missense_Mutation_p.P672L|FANCD2_ENST00000383806.1_Missense_Mutation_p.P672L|FANCD2_ENST00000383807.1_Missense_Mutation_p.P672L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2			51					TGTGTTGTTCCGGAAGGGTAG	0.458000			D, Mis, N, F			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					yes	Rec		Fanconi anaemia D2	3	3p26	2177	Fanconi anemia, complementation group D2		L	0							SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000419585.1	1	1	hg19	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654704	0.29425	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.58	4.65	0.58169	.	0.272563	0.42172	D	0.000754	T	0.31606	0.0802	L	0.46741	1.465	0.38805	D	0.955286	B;B	0.18610	0.016;0.029	B;B	0.11329	0.006;0.006	T	0.15954	-1.0419	10	0.27785	T	0.31	.	6.7806	0.23643	0.1764:0.7359:0.0:0.0877	.	672;672	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	L	672	ENSP00000287647:P672L;ENSP00000373318:P672L;ENSP00000373317:P672L;ENSP00000398754:P672L	ENSP00000287647:P672L	P	+	2	0	FANCD2	10081107	0.601000	0.26907	0.984000	0.44739	0.786000	0.44442	2.069000	0.41481	2.808000	0.96608	0.585000	0.79938	CCG		TCGA-HZ-A49I-01A-12D-A26I-08	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1	0	0	0	39	730	0	287	0	1.090857e-01	0	11	0	287	2		0	0	0	0	0	2	1	1.000000	38	709	0	359	2								-3.136632	1	1	121412	3	37	1	0	0	0	2.037599	0	0.350000	1.860000	0.345418	0.280000	0.200000	0.380000	0.290000	0.293660	0.280000	0	0.240000	0.340000
NEK10	152110	broad.mit.edu	37	3	27346443	27346443	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:27346443G>A	ENST00000429845.2	-	13	1185	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	NEK10_ENST00000341435.5_Missense_Mutation_p.R275C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10			41					CAAAGTAGGCGCAGCAACTCC	0.502000																								0							SO:0001583	missense			ENST00000429845.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.46	2.541047	0.45280	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.51071	0.72	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.67608	-0.5627	10	0.87932	D	0	.	14.7031	0.69168	0.0717:0.0:0.9283:0.0	.	275	Q6ZWH5	NEK10_HUMAN	C	275	ENSP00000343847:R275C	ENSP00000343847:R275C	R	-	1	0	NEK10	27321447	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	4.640000	0.61368	2.695000	0.91970	0.650000	0.86243	CGC		TCGA-HZ-A49I-01A-12D-A26I-08	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	0	0	0	6	136	0	44	0	1.480307e-02	0	4	0	44	2		0	0	0	0	0	2	1	0.965248	6	135	0	44	2								-8.857866	1	1	120400	6	32	1	0	0	0	2.037599	0	0.350000	1.860000	0.345418	0.250000	0.100000	0.480000	0.230000	0.272178	0.250000	0	0.160000	0.370000
SLC6A20	54716	broad.mit.edu	37	3	45817325	45817325	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:45817325C>T	ENST00000358525.4	-	4	625	c.510G>A	c.(508-510)ccG>ccA	p.P170P	SLC6A20_ENST00000456124.2_Silent_p.P170P|SLC6A20_ENST00000353278.4_Silent_p.P170P	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20			13					GGCACAGCGCCGGCTCCCACT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000358525.4	1	1	hg19	CCDS43077.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	1	0	1	107	453	0	223	1	9.637646e-01	3	22	0	223	2		0	0	0	0	0	2	1	1.000000	107	442	0	222	2								-3.180656	1	1	121412	3	38	1	0	0	0	2.037599	0	0.350000	1.860000	0.345418	0.990000	0.900000	1.000000	1.000000	0.991416	0.990000	1	0.980000	1.000000
ENPP6	133121	broad.mit.edu	37	4	185033945	185033945	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:185033945G>A	ENST00000296741.2	-	6	1014	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6			15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)			GTTCCACTGTGCTCAGTTTGT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000296741.2	1	1	hg19	CCDS3834.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	1	0	0	107	445	0	191		0	0	0	0	191	2		0	0	0	0	0	2	1	1.000000	108	440	1	191	12								-20.000000	1	1	0	0		1	0	0	0	1.706032	1	0.350000	1.860000	0.212121	0.890000	0.750000	0.990000	0.910000	0.893266	0.890000	1	0.820000	0.960000
NUDT9	53343	broad.mit.edu	37	4	88370318	88370318	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:88370318T>A	ENST00000302174.4	+	5	879	c.555T>A	c.(553-555)aaT>aaA	p.N185K	NUDT9_ENST00000473942.1_Missense_Mutation_p.N135K|NUDT9_ENST00000515371.1_3'UTR	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9			11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			GCAGTGGAAATAAAATCATGC	0.338000																								0							SO:0001583	missense			ENST00000302174.4	1	1	hg19	CCDS3620.1	.	.	.	.	.	.	.	.	.	.	T	7.271	0.607206	0.14002	.	.	ENSG00000170502	ENST00000302174;ENST00000512216;ENST00000473942;ENST00000440591	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.18	3.95	0.45737	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.390200	0.31697	N	0.007215	T	0.08626	0.0214	L	0.34521	1.04	0.38231	D	0.941037	B;B	0.34200	0.144;0.441	B;B	0.30401	0.019;0.115	T	0.19289	-1.0310	10	0.09590	T	0.72	-20.4549	9.3747	0.38275	0.0:0.0829:0.0:0.9171	.	185;185	Q96KB3;Q9BW91	.;NUDT9_HUMAN	K	185;135;135;153	ENSP00000303575:N185K;ENSP00000424702:N135K;ENSP00000421811:N135K;ENSP00000410270:N153K	ENSP00000303575:N185K	N	+	3	2	NUDT9	88589342	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	1.139000	0.31504	0.878000	0.35920	0.460000	0.39030	AAT		TCGA-HZ-A49I-01A-12D-A26I-08	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2	1	0	1	77	198	0	118	1	9.999950e-01	34	16	0	118	2		0	0	0	0	0	2	1	1.000000	76	196	1	117	10								-20.000000	1	1	0	0		1	0	0	0	1.720113	1	0.350000	1.860000	0.208764	0.950000	0.860000	1.000000	0.970000	0.953341	0.950000	1	0.910000	0.980000
ITK	3702	broad.mit.edu	37	5	156675985	156675985	+	Missense_Mutation	SNP	G	G	A	rs56005928	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:156675985G>A	ENST00000422843.3	+	16	1911	c.1759G>A	c.(1759-1761)Gtc>Atc	p.V587I	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase			70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)	Pazopanib(DB06589)	CTCCACACACGTCTACCAGAT	0.507000			T	SYK	peripheral T-cell lymphoma								Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0							SO:0001583	missense			ENST00000422843.3	1	0	hg19	CCDS4336.1	7	0.003205128205128205	0	0.0	0	0.0	1	0.0017482517482517483	6	0.0079155672823219	G	2.773	-0.255181	0.05829	4.54E-4	0.002674	ENSG00000113263	ENST00000422843	D	0.82433	-1.61	5.41	0.282	0.15692	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.405452	0.29987	N	0.010696	T	0.55497	0.1924	N	0.14661	0.345	0.26058	N	0.981382	B	0.02656	0.0	B	0.04013	0.001	T	0.41875	-0.9484	10	0.11794	T	0.64	.	9.2885	0.37771	0.6236:0.0:0.3764:0.0	rs56005928	587	Q08881	ITK_HUMAN	I	587	ENSP00000398655:V587I	ENSP00000398655:V587I	V	+	1	0	ITK	156608563	0.001000	0.12720	0.084000	0.20598	0.536000	0.34869	0.012000	0.13287	-0.100000	0.12241	-0.806000	0.03193	GTC		TCGA-HZ-A49I-01A-12D-A26I-08	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2	0	0	1	49	263	1	116	0	0	0	1	1	116	2		0	0	0	0	0	2	1	1.000000	49	258	1	114	11								-3.620247	1	1	121412	415	58	1	0	1	1	2.049467	0	0.350000	1.860000	0.348861	0.890000	0.670000	1.000000	1.000000	0.888646	0.890000	1	0.780000	1.000000
MTMR12	54545	broad.mit.edu	37	5	32235181	32235181	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:32235181G>A	ENST00000382142.3	-	14	1569	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	MTMR12_ENST00000510216.1_5'Flank|MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Missense_Mutation_p.P467S|RNU6-1079P_ENST00000362861.1_RNA	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12			34					AATGCCGGGGGATGCTGGTGC	0.453000																								0							SO:0001583	missense			ENST00000382142.3	1	1	hg19	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097433	0.56075	.	.	ENSG00000150712	ENST00000280285;ENST00000382142	D;D	0.96619	-4.07;-4.07	5.12	3.3	0.37823	Myotubularin phosphatase domain (1);	0.281329	0.35903	N	0.002906	D	0.94430	0.8208	M	0.73753	2.245	0.80722	D	1	B;P	0.48503	0.116;0.911	B;B	0.39840	0.051;0.311	D	0.91776	0.5431	10	0.54805	T	0.06	.	9.7409	0.40418	0.0733:0.0:0.7865:0.1402	.	467;467	Q9C0I1-2;Q9C0I1	.;MTMRC_HUMAN	S	467	ENSP00000280285:P467S;ENSP00000371577:P467S	ENSP00000280285:P467S	P	-	1	0	MTMR12	32270938	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.051000	0.64257	0.529000	0.28599	0.462000	0.41574	CCC		TCGA-HZ-A49I-01A-12D-A26I-08	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	0	0	0	8	268	0	93	0	1.077405e-01	1	16	0	93	2		0	0	0	0	0	2	1	0.989655	8	268	0	91	2								-9.460262	1	1	121412	1	32	1	1	2	3	2.050384	0	0.350000	1.860000	0.351136	0.170000	0.070000	0.320000	0.160000	0.184082	0.170000	0	0.110000	0.240000
ITGA1	3672	broad.mit.edu	37	5	52235424	52235424	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:52235424C>T	ENST00000282588.6	+	25	3541	c.3083C>T	c.(3082-3084)gCa>gTa	p.A1028V	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1			51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)			TTCTAGAATGCAAACTGCAGA	0.383000																								0							SO:0001583	missense			ENST00000282588.6	1	1	hg19	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	8.986	0.976553	0.18736	.	.	ENSG00000213949	ENST00000282588	T	0.43688	0.94	6.05	0.357	0.16079	Integrin alpha-2 (1);	0.925991	0.09267	N	0.825684	T	0.12347	0.0300	N	0.00583	-1.355	0.20489	N	0.999896	B	0.02656	0.0	B	0.04013	0.001	T	0.31194	-0.9952	10	0.13108	T	0.6	.	8.9331	0.35684	0.0:0.5162:0.0:0.4838	.	1028	P56199	ITA1_HUMAN	V	1028	ENSP00000282588:A1028V	ENSP00000282588:A1028V	A	+	2	0	ITGA1	52271181	0.062000	0.20869	0.366000	0.25914	0.548000	0.35241	0.078000	0.14761	0.099000	0.17552	0.650000	0.86243	GCA		TCGA-HZ-A49I-01A-12D-A26I-08	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	1	0	1	36	238	0	89	1	9.999090e-01	14	82	0	89	2		0	0	0	0	0	2	1	1.000000	36	238	0	89	2								-16.529710	1	1	0	0		1	1	2	3	2.050384	0	0.350000	1.860000	0.351136	0.750000	0.540000	1.000000	0.750000	0.760813	0.750000	0	0.640000	0.880000
PRL	5617	broad.mit.edu	37	6	22292852	22292852	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:22292852C>T	ENST00000306482.1	-	3	745	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin			16	Ovarian(93;0.163)				AATGAACCCCCGGCCATGGGT	0.458000																								0							SO:0001583	missense			ENST00000306482.1	1	1	hg19	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178944	0.38511	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.88431	-2.38	6.07	3.33	0.38152	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.249538	0.42294	N	0.000740	T	0.71290	0.3322	L	0.54863	1.705	0.09310	N	0.999997	B;P	0.43826	0.024;0.818	B;B	0.33799	0.023;0.17	T	0.61662	-0.7017	10	0.33940	T	0.23	2.0715	9.4164	0.38523	0.0:0.7519:0.1196:0.1286	.	76;77	P01236;Q5I0G2	PRL_HUMAN;.	Q	76;45	ENSP00000302150:R76Q	ENSP00000302150:R76Q	R	-	2	0	PRL	22400831	0.014000	0.17966	0.001000	0.08648	0.607000	0.37147	0.491000	0.22419	0.443000	0.26582	0.655000	0.94253	CGG		TCGA-HZ-A49I-01A-12D-A26I-08	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	1	0	1	51	184	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1.000000	51	183	0	95	2								-3.286340	1	1	121412	6	39	1	0	1	1	1.668703	1	0.350000	1.860000	0.212121	0.920000	0.740000	1.000000	0.990000	0.912589	0.920000	1	0.830000	0.980000
BACH2	60468	broad.mit.edu	37	6	90661558	90661558	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:90661558C>T	ENST00000257749.4	-	7	974	c.267G>A	c.(265-267)ccG>ccA	p.P89P	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.P89P|BACH2_ENST00000343122.3_Silent_p.P89P	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2			45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)			ACTGTAACAGCGGCCCAAAGC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000257749.4	1	1	hg19	CCDS5026.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	0	0	0	8	280	0	132	0	0	0	1	0	132	2		0	0	0	0	0	2	1	0.989337	8	278	0	132	2								-8.664479	1	1	121370	1	29	1	0	0	0	2.030089	0	0.350000	1.860000	0.345418	0.160000	0.070000	0.290000	0.160000	0.174945	0.160000	0	0.110000	0.230000
MGAM	8972	broad.mit.edu	37	7	141752741	141752741	+	Missense_Mutation	SNP	G	G	C	rs139662456	by1000genomes	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:141752741G>C	ENST00000549489.2	+	26	3211	c.3116G>C	c.(3115-3117)cGc>cCc	p.R1039P	MGAM_ENST00000475668.2_Missense_Mutation_p.R1039P	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)			13	Melanoma(164;0.0272)			Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACCCCCTTCGCCTGGATGTC	0.453000																								0							SO:0001583	missense			ENST00000549489.2	1	0	hg19	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343095	0.41498	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.13538	2.58	4.39	0.436	0.16549	Glycoside hydrolase-type carbohydrate-binding (1);	0.871763	0.09557	N	0.786123	T	0.29945	0.0749	M	0.92122	3.275	0.09310	N	1	P	0.49253	0.921	P	0.47118	0.538	T	0.18493	-1.0335	10	0.62326	D	0.03	.	7.83	0.29336	0.4799:0.0:0.5201:0.0	.	1039	O43451	MGA_HUMAN	P	1039;1039;916	ENSP00000447378:R1039P	ENSP00000316431:R916P	R	+	2	0	MGAM	141399210	0.005000	0.15991	0.006000	0.13384	0.017000	0.09413	1.298000	0.33412	-0.287000	0.09064	-0.717000	0.03617	CGC		TCGA-HZ-A49I-01A-12D-A26I-08	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3	1	0	1	53	346	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1.000000	53	344	0	117	2								-5.553828	1	1	0	0		1	0	0	0	2.043567	0	0.350000	1.860000	0.347717	0.750000	0.570000	0.950000	0.750000	0.762801	0.750000	0	0.660000	0.860000
SKAP2	8935	broad.mit.edu	37	7	26883668	26883668	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:26883668G>A	ENST00000345317.2	-	4	601	c.288C>T	c.(286-288)gaC>gaT	p.D96D	SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2			17					GGGCTTCATCGTCTTTATCAT	0.408000																								0							SO:0001819	synonymous_variant			ENST00000345317.2	1	0	hg19	CCDS5400.1																																																																																				TCGA-HZ-A49I-01A-12D-A26I-08	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1	1	0	1	144	814	0	357	1	9.510221e-01	8	22	0	357	2		0	0	0	0	0	2	1	1.000000	143	807	0	356	2								-20.000000	1	1	121412	1	39	1	0	1	1	2.046091	0	0.350000	1.860000	0.348861	0.850000	0.720000	0.980000	0.860000	0.859373	0.850000	1	0.780000	0.920000
PLEKHA8	84725	broad.mit.edu	37	7	30094411	30094411	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:30094411T>G	ENST00000449726.1	+	8	1233	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.C295G|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.C295G|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.C295G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8			17					AGACTCAAGTTGCTCTCCGGA	0.403000																								0							SO:0001583	missense			ENST00000449726.1	1	1	hg19	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	T	6.983	0.551408	0.13374	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.63	1.47	0.22746	.	1.546830	0.03461	N	0.212180	T	0.19127	0.0459	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.16541	-1.0399	9	0.20046	T	0.44	-5.9383	0.163	0.00105	0.2309:0.1762:0.2132:0.3797	.	295;295;295;295	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	G	295;295;295;295;321	.	ENSP00000258679:C295G	C	+	1	0	PLEKHA8	30060936	0.141000	0.22595	0.004000	0.12327	0.048000	0.14542	1.196000	0.32198	0.445000	0.26639	0.533000	0.62120	TGC		TCGA-HZ-A49I-01A-12D-A26I-08	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	102	549	0	206	0	2.421924e-01	0	6	0	206	2		0	0	0	0	0	2	1	1.000000	102	545	0	205	2								-20.000000	1	1	0	0		1	0	1	1	2.046091	0	0.350000	1.860000	0.348861	0.880000	0.730000	1.000000	1.000000	0.892742	0.880000	1	0.810000	0.980000
VPS13B	157680	broad.mit.edu	37	8	100861089	100861089	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:100861089G>T	ENST00000358544.2	+	55	10214	c.10103G>T	c.(10102-10104)gGa>gTa	p.G3368V	VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343V|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)			193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		GCCCCAGAAGGAAAAGCAGGA	0.398000													Colon(161;2205 2542 7338 31318)											0							SO:0001583	missense			ENST00000358544.2	1	1	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707973	0.68615	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.73469	-0.75;-0.75	5.83	4.04	0.47022	.	0.181715	0.47852	D	0.000206	T	0.73458	0.3589	L	0.40543	1.245	0.80722	D	1	P;P	0.47191	0.836;0.891	P;P	0.52343	0.696;0.617	T	0.68762	-0.5323	10	0.27785	T	0.31	.	12.4675	0.55768	0.1326:0.0:0.8674:0.0	.	3343;3368	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	V	3343;3368	ENSP00000349685:G3343V;ENSP00000351346:G3368V	ENSP00000349685:G3343V	G	+	2	0	VPS13B	100930265	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.888000	0.69758	0.817000	0.34445	0.650000	0.86243	GGA		TCGA-HZ-A49I-01A-12D-A26I-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	0	0	0	16	620	0	177	0	1.427359e-02	0	7	0	177	2		0	0	0	0	0	2	1	0.999928	16	614	0	176	2								-3.218429	1	1	0	0		1	0	1	1	1.655022	1	0.350000	1.860000	0.212121	0.110000	0.060000	0.180000	0.120000	0.124876	0.110000	0	0.080000	0.150000
RP1L1	94137	broad.mit.edu	37	8	10470187	10470187	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:10470187C>G	ENST00000382483.3	-	4	1644	c.1421G>C	c.(1420-1422)aGg>aCg	p.R474T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1			148					CTCCGGGGTCCTGGGGCAGCA	0.701000																								0							SO:0001583	missense			ENST00000382483.3	1	1	hg19	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778440	0.31502	.	.	ENSG00000183638	ENST00000382483	T	0.04917	3.53	4.99	4.99	0.66335	.	0.443402	0.16804	U	0.198863	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	P	0.48764	0.915	P	0.45232	0.474	T	0.38394	-0.9663	10	0.30854	T	0.27	-7.7844	8.8491	0.35188	0.0:0.8913:0.0:0.1087	.	474	A6NKC6	.	T	474	ENSP00000371923:R474T	ENSP00000371923:R474T	R	-	2	0	RP1L1	10507597	0.041000	0.20044	0.010000	0.14722	0.065000	0.16274	1.394000	0.34509	2.302000	0.77476	0.561000	0.74099	AGG		TCGA-HZ-A49I-01A-12D-A26I-08	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	1	0	1	67	328	0	174	0	0	0	1	0	174	2		0	0	0	0	0	2	1	1.000000	67	325	0	173	2								-3.173588	1	1	120526	1	28	1	1	2	3	2.091493	0	0.350000	1.860000	0.357866	0.980000	0.770000	1.000000	1.000000	0.952008	0.980000	1	0.870000	1.000000
PLEC	5339	broad.mit.edu	37	8	144992083	144992083	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:144992083G>A	ENST00000322810.4	-	32	12486	c.12317C>T	c.(12316-12318)gCg>gTg	p.A4106V	PLEC_ENST00000436759.2_Missense_Mutation_p.A3996V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3969V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3992V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3973V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3947V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3969V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3955V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3937V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					GGCCGCCTGCGCCTCCAGGAG	0.632000																								0							SO:0001583	missense			ENST00000322810.4	1	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	6.744	0.506057	0.12883	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.08	4.21	0.49690	.	0.000000	0.64402	U	0.000008	D	0.89410	0.6707	M	0.93854	3.465	0.54753	D	0.999989	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P;P	0.61940	0.833;0.833;0.833;0.896;0.833;0.833;0.833;0.833	D	0.91813	0.5461	10	0.66056	D	0.02	.	13.6323	0.62202	0.0753:0.0:0.9247:0.0	.	3996;3955;3947;4106;3937;3969;3973;3969	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	3969;3973;3969;3937;4106;3947;3955;3996;3992	ENSP00000344848:A3969V;ENSP00000350277:A3973V;ENSP00000346602:A3969V;ENSP00000381756:A3937V;ENSP00000323856:A4106V;ENSP00000347044:A3947V;ENSP00000348702:A3955V;ENSP00000388180:A3996V;ENSP00000434583:A3992V	ENSP00000323856:A4106V	A	-	2	0	PLEC	145064071	1.000000	0.71417	0.926000	0.36857	0.002000	0.02628	6.524000	0.73791	1.397000	0.46682	-0.237000	0.12165	GCG		TCGA-HZ-A49I-01A-12D-A26I-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	1	27	165	0	76	1	1	375	501	0	76	2		0	0	0	0	0	2	1	1.000000	27	161	0	76	2								-20.000000	1	1	121066	2	29	1	1	2	3	2.052290	0	0.350000	1.860000	0.351136	0.800000	0.550000	1.000000	1.000000	0.809929	0.800000	0	0.670000	0.960000
NR6A1	2649	broad.mit.edu	37	9	127316820	127316820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:127316820G>A	ENST00000487099.2	-	3	329	c.172C>T	c.(172-174)Cga>Tga	p.R58*	NR6A1_ENST00000344523.4_Nonsense_Mutation_p.R58*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.R54*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.R54*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1			17					AGACAGGTTCGTTGTTCAGCC	0.463000													Esophageal Squamous(192;272 2884 6208 20560)											0							SO:0001587	stop_gained			ENST00000487099.2	0	1	hg19	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168299	0.94768	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	.	.	.	5.46	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.3582	0.55188	0.0:0.0:0.6932:0.3068	.	.	.	.	X	58;54;54;58;16	.	ENSP00000341135:R58X	R	-	1	2	NR6A1	126356641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.424000	0.59868	1.256000	0.44068	0.563000	0.77884	CGA		TCGA-HZ-A49I-01A-12D-A26I-08	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4	1	0	1	82	357	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1.000000	83	356	0	139	2								-20.000000	1	1	0	0		1	0	0	0	2.038036	0	0.350000	1.860000	0.345418	0.990000	0.850000	1.000000	1.000000	0.982852	0.990000	1	0.950000	1.000000
