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
ABI2	10152	broad.mit.edu	37	2	204267424	204267427	+	Frame_Shift_Del	DEL	ATGA	ATGA	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204267424_204267427delATGA	ENST00000422511.2	+	9	1091_1094	c.1060_1063delATGA	c.(1060-1065)atgaatfs	p.MN354fs	ABI2_ENST00000430418.1_Frame_Shift_Del_p.MN332fs|ABI2_ENST00000295851.5_Frame_Shift_Del_p.MN387fs|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261016.6_Frame_Shift_Del_p.MN275fs|ABI2_ENST00000261017.5_Frame_Shift_Del_p.MN320fs|ABI2_ENST00000261018.7_Frame_Shift_Del_p.MN173fs|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000424558.1_Frame_Shift_Del_p.MN381fs			Q9NYB9	ABI2_HUMAN	abl-interactor 2			15					TCAGAATCAGATGAATGGAGGACC	0.407000																								0							SO:0001589	frameshift_variant			ENST00000422511.2	0	1	hg19																																																																																					TCGA-HZ-A4BH-01A-11D-A26I-08	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	1	0	0	65	566	0	52	1	9.111372e-01	3	35	0	52	2	0	0	0	0	0	0		1	1.000000	80	574	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.064020	0	0.310000	1.820000	0.312132	0.660000	0.520000	0.850000	0.670000	0.675619	0.660000	0	5.800000e-01	7.500000e-01
RSU1	6251	broad.mit.edu	37	10	16794556	16794556	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:16794556C>T	ENST00000377921.3	-	6	881	c.580G>A	c.(580-582)Gtt>Att	p.V194I	RSU1_ENST00000345264.5_Missense_Mutation_p.V194I|RSU1_ENST00000602389.1_Missense_Mutation_p.V141I|RSU1_ENST00000464074.2_5'UTR			Q15404	RSU1_HUMAN	Ras suppressor protein 1			14					GGGGGCAGAACGGTGAGGCGG	0.468000																								0							SO:0001583	missense			ENST00000377921.3	1	1	hg19	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212821	0.79352	.	.	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	T;T	0.09255	3.0;3.0	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.20610	0.595	0.80722	D	1	D;D	0.76494	0.981;0.999	P;D	0.63703	0.899;0.917	T	0.04017	-1.0984	10	0.42905	T	0.14	-5.5557	18.8996	0.92437	0.0:1.0:0.0:0.0	.	194;194	B0YJ73;Q15404	.;RSU1_HUMAN	I	194;194;141	ENSP00000339521:V194I;ENSP00000367154:V194I	ENSP00000339521:V194I	V	-	1	0	RSU1	16834562	1.000000	0.71417	0.972000	0.41901	0.836000	0.47400	7.456000	0.80751	2.471000	0.83476	0.585000	0.79938	GTT		TCGA-HZ-A4BH-01A-11D-A26I-08	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	1	0	1	57	668	1	101	1	9.913823e-01	41	251	1	101	12		0	0	0	0	0	2	1	1.000000	53	649	0	97	2								-13.148030	1	1	121410	2	34	1	0	1	1	1.909855	0	0.310000	1.820000	0.250774	0.460000	0.350000	0.590000	0.460000	0.472071	0.460000	0	4.000000e-01	5.300000e-01
ANKRD30A	91074	broad.mit.edu	37	10	37506771	37506771	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:37506771A>G	ENST00000602533.1	+	33	3163	c.3064A>G	c.(3064-3066)Ata>Gta	p.I1022V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I1141V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1022V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A			158					AATACAAGATATAGAATTGAA	0.274000																								0							SO:0001583	missense			ENST00000602533.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	a	0.004	-2.272481	0.00257	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.16457	2.34;2.34	2.78	-5.55	0.02536	.	.	.	.	.	T	0.05640	0.0148	N	0.16368	0.405	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41215	-0.9521	9	0.02654	T	1	.	1.7614	0.02992	0.2387:0.2515:0.3726:0.1371	.	1078	Q9BXX3	AN30A_HUMAN	V	1022;1141	ENSP00000354432:I1022V;ENSP00000363792:I1141V	ENSP00000354432:I1022V	I	+	1	0	ANKRD30A	37546777	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.305000	0.02738	-1.298000	0.02348	-0.435000	0.05868	ATA		TCGA-HZ-A4BH-01A-11D-A26I-08	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	1	0	1	29	161	0	18	0	0	0	1	0	18	2		0	0	0	0	0	2	1	1.000000	29	160	0	18	2								-20.000000	1	1	0	0		1	0	1	1	1.912229	0	0.310000	1.820000	0.272804	0.920000	0.650000	1.000000	1.000000	0.903843	0.920000	1	7.800000e-01	1
FRMPD2	143162	broad.mit.edu	37	10	49457187	49457187	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:49457187G>A	ENST00000374201.3	-	3	488	c.186C>T	c.(184-186)gcC>gcT	p.A62A	FRMPD2_ENST00000407470.4_Silent_p.A53A|FRMPD2_ENST00000305531.3_Silent_p.A60A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2			66					CAGAAAGCAGGGCTGACCAGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000374201.3	1	1	hg19	CCDS31195.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	1	0	1	39	179	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1.000000	39	179	0	77	2								-20.000000	1	1	0	0		1	0	1	1	1.912229	0	0.310000	1.820000	0.272804	0.990000	0.800000	1.000000	1.000000	0.976317	0.990000	1	9.300000e-01	1
CHAT	1103	broad.mit.edu	37	10	50833616	50833616	+	Missense_Mutation	SNP	G	G	A	rs146236256		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:50833616G>A	ENST00000337653.2	+	6	1003	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000395559.2_Missense_Mutation_p.G166S|CHAT_ENST00000395562.2_Missense_Mutation_p.G202S|CHAT_ENST00000339797.1_Missense_Mutation_p.G166S|CHAT_ENST00000351556.3_Missense_Mutation_p.G166S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase			56		all_neural(218;0.107)		Choline(DB00122)|Nicotine(DB00184)	CCGGCTCCCCGGCCATACCCA	0.592000																								0							SO:0001583	missense			ENST00000337653.2	1	1	hg19	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486814	0.84854	0.0	1.16E-4	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.975;0.981	D	0.97201	0.9864	10	0.87932	D	0	-30.9801	18.8	0.92013	0.0:0.0:1.0:0.0	.	166;284	F8W8I2;P28329	.;CLAT_HUMAN	S	166;166;166;284;202;166	ENSP00000343486:G166S;ENSP00000345878:G166S;ENSP00000378926:G166S;ENSP00000337103:G284S;ENSP00000378929:G202S;ENSP00000390521:G166S	ENSP00000337103:G284S	G	+	1	0	CHAT	50503622	1.000000	0.71417	0.836000	0.33094	0.196000	0.23810	9.852000	0.99516	2.439000	0.82584	0.411000	0.27672	GGC		TCGA-HZ-A4BH-01A-11D-A26I-08	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	1	0	1	15	71	0	26	0	0	0	1	0	26	2		0	0	0	0	0	2	1	0.999916	15	70	0	26	2								-10.979210	1	1	121400	10	38	1	0	1	1	1.912229	0	0.310000	1.820000	0.272804	0.990000	0.640000	1.000000	1.000000	0.939377	0.990000	1	8.300000e-01	1
GRID1	2894	broad.mit.edu	37	10	87362370	87362370	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:87362370G>A	ENST00000327946.7	-	16	2775	c.2690C>T	c.(2689-2691)tCg>tTg	p.S897L	GRID1_ENST00000536331.1_Missense_Mutation_p.S468L|RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1			106					GAGCTCAATCGACGCTGGGGA	0.592000										Multiple Myeloma(13;0.14)														0							SO:0001583	missense			ENST00000327946.7	1	1	hg19	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708583	0.68615	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.16457	2.59;2.34	5.74	4.84	0.62591	.	0.047518	0.85682	D	0.000000	T	0.34424	0.0897	L	0.55481	1.735	0.58432	D	0.999998	D	0.64830	0.994	D	0.64042	0.921	T	0.05971	-1.0853	10	0.62326	D	0.03	.	13.749	0.62894	0.0737:0.0:0.9263:0.0	.	897	Q9ULK0	GRID1_HUMAN	L	897;468	ENSP00000330148:S897L;ENSP00000444455:S468L	ENSP00000330148:S897L	S	-	2	0	GRID1	87352350	1.000000	0.71417	0.619000	0.29118	0.608000	0.37181	9.869000	0.99810	1.430000	0.47334	-0.218000	0.12543	TCG		TCGA-HZ-A4BH-01A-11D-A26I-08	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	1	0	1	28	120	0	26	0	7.718569e-01	0	14	0	26	2		0	0	0	0	0	2	1	1.000000	28	119	0	26	2								-20.000000	1	1	121410	1	25	1	0	1	1	1.912229	0	0.310000	1.820000	0.272804	0.990000	0.800000	1.000000	1.000000	0.980450	0.990000	1	9.600000e-01	1
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	rs144467940	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1			78		all_epithelial(135;0.208)			TTCTGTGGGACGGTGTGTTCT	0.453000																								0							SO:0001583	missense			ENST00000333973.2	1	1	hg19	CCDS31509.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	c	9.351	1.065546	0.20067	.	.	ENSG00000186117	ENST00000333973	T	0.00091	8.74	3.98	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.729368	0.12300	N	0.481164	T	0.00073	0.0002	N	0.04705	-0.18	0.09310	N	1	B	0.25105	0.118	B	0.28991	0.097	T	0.09292	-1.0681	10	0.44086	T	0.13	-0.6723	10.911	0.47108	0.0:0.2882:0.0:0.7118	.	153	Q8NGL2	OR5L1_HUMAN	M	153	ENSP00000335529:T153M	ENSP00000335529:T153M	T	+	2	0	OR5L1	55335976	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.308000	0.08156	-0.861000	0.04094	-0.516000	0.04426	ACG		TCGA-HZ-A4BH-01A-11D-A26I-08	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	1	0	1	168	871	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1.000000	168	866	0	108	2								-20.000000	1	1	121410	218	59	1	1	2	3	2.063691	0	0.310000	1.820000	0.312132	0.990000	0.900000	1.000000	1.000000	0.988936	0.990000	1	9.700000e-01	1
RARRES3	5920	broad.mit.edu	37	11	63307030	63307030	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:63307030C>T	ENST00000255688.3	+	2	100	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RARRES3_ENST00000439013.2_Missense_Mutation_p.R18C|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.R18C	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3			6					TGAGATTTTCCGCCTTGGCTA	0.483000																								0							SO:0001583	missense			ENST00000255688.3	1	1	hg19	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768386	0.49680	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.46063	0.88;0.88;0.88	4.35	2.47	0.30058	.	0.263285	0.27636	N	0.018488	T	0.65523	0.2699	M	0.90369	3.11	0.09310	N	0.999993	D	0.89917	1.0	D	0.73380	0.98	T	0.57388	-0.7820	10	0.87932	D	0	.	8.3897	0.32520	0.0:0.8054:0.0:0.1946	.	18	Q9UL19	TIG3_HUMAN	C	18	ENSP00000402943:R18C;ENSP00000255688:R18C;ENSP00000346431:R18C	ENSP00000255688:R18C	R	+	1	0	RARRES3	63063606	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	1.900000	0.39828	0.591000	0.29711	-0.251000	0.11542	CGC		TCGA-HZ-A4BH-01A-11D-A26I-08	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1	1	0	0	31	419	0	57	1	1	91	560	0	57	2		0	0	0	0	0	2	1	1.000000	31	416	0	57	2								-2.774718	1	1	121406	8	42	1	1	2	3	2.063691	0	0.310000	1.820000	0.312132	0.440000	0.310000	0.640000	0.440000	0.461257	0.440000	0	3.700000e-01	5.400000e-01
NRXN2	9379	broad.mit.edu	37	11	64434761	64434761	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:64434761C>T	ENST00000377551.1	-	8	1970	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	NRXN2_ENST00000265459.6_Missense_Mutation_p.E587K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K			Q9P2S2	NRX2A_HUMAN	neurexin 2	p.E587K(1)		71					TGACACCACTCGCCATCATTG	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000377551.1	1	1	hg19	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087169	0.94100	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	U	0.000657	T	0.80491	0.4633	L	0.28115	0.83	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.69479	0.964;0.936;0.909	T	0.83054	-0.0151	10	0.72032	D	0.01	.	14.9631	0.71171	0.0:1.0:0.0:0.0	.	556;587;333	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	K	587;556;587;556;580	ENSP00000366774:E587K;ENSP00000366782:E556K;ENSP00000265459:E587K;ENSP00000386416:E580K	ENSP00000265459:E587K	E	-	1	0	NRXN2	64191337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.637000	0.83313	2.383000	0.81215	0.448000	0.29417	GAG		TCGA-HZ-A4BH-01A-11D-A26I-08	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	1	0	1	81	492	0	120	0	0	0	1	0	120	2		0	0	0	0	0	2	1	1.000000	80	486	0	118	2								-3.142769	1	1	0	0		1	1	2	3	2.063691	0	0.310000	1.820000	0.312132	0.910000	0.730000	1.000000	1.000000	0.909411	0.910000	1	8.200000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-A4BH-01A-11D-A26I-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	21	90	0	10	1	8.023678e-01	11	4	0	10	2	1	1	28	131	0	389	2	1	0.999999	21	89	0	10	2								-14.884310	1	1	121404	2	44	1	0	1	1	1.717647	1	0.310000	1.820000	0.183432	0.870000	0.620000	1.000000	0.990000	0.862398	0.870000	1	7.500000e-01	9.700000e-01
AGAP2	116986	broad.mit.edu	37	12	58127884	58127884	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:58127884G>A	ENST00000547588.1	-	5	1473	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	AGAP2_ENST00000257897.3_Missense_Mutation_p.R156C	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	p.R156S(1)		48					CCATGGAGACGGCTCACAGCC	0.592000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000547588.1	1	1	hg19	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.086143|3.086143	0.55861|0.55861	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	.|T;T	.|0.23552	.|1.9;1.9	5.43|5.43	3.6|3.6	0.41247|0.41247	.|Mitochondrial Rho-like (1);	.|0.401538	.|0.26092	.|N	.|0.026393	T|T	0.43986|0.43986	0.1272|0.1272	L|L	0.52905|0.52905	1.665|1.665	0.39166|0.39166	D|D	0.962491|0.962491	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|P;D;D	.|0.70487	.|0.671;0.948;0.969	T|T	0.34850|0.34850	-0.9812|-0.9812	5|10	.|0.56958	.|D	.|0.05	.|.	13.0081|13.0081	0.58717|0.58717	0.1502:0.0:0.8498:0.0|0.1502:0.0:0.8498:0.0	.|.	.|156;492;492	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	L|C	355|156;492	.|ENSP00000257897:R156C;ENSP00000449241:R492C	.|ENSP00000257897:R156C	P|R	-|-	2|1	0|0	AGAP2|AGAP2	56414151|56414151	0.258000|0.258000	0.24033|0.24033	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	0.557000|0.557000	0.23454|0.23454	0.378000|0.378000	0.24764|0.24764	-1.134000|-1.134000	0.01955|0.01955	CCG|CGT		TCGA-HZ-A4BH-01A-11D-A26I-08	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	1	0	0	15	196	0	37	0	9.462908e-02	0	7	0	37	2		0	0	0	0	0	2	1	0.999886	15	195	0	36	2								-3.319119	1	1	0	0		1	1	2	3	2.068349	0	0.310000	1.820000	0.312132	0.460000	0.270000	0.760000	0.460000	0.486154	0.460000	0	3.600000e-01	6.000000e-01
MSRB3	253827	broad.mit.edu	37	12	65857005	65857005	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:65857005C>T	ENST00000355192.3	+	6	608	c.482C>T	c.(481-483)tCg>tTg	p.S161L	MSRB3_ENST00000308259.5_Missense_Mutation_p.S154L|MSRB3_ENST00000535664.1_Missense_Mutation_p.S154L	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	p.S161L(1)|p.S154L(1)		13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)		TGCATAAATTCGGCTGCCTTG	0.547000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000355192.3	1	1	hg19	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393034	0.96009	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96448	0.9332	9	.	.	.	-2.9871	20.3325	0.98724	0.0:1.0:0.0:0.0	.	161;154	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	L	161;154;154;154	ENSP00000347324:S161L;ENSP00000312274:S154L;ENSP00000441650:S154L;ENSP00000445843:S154L	.	S	+	2	0	MSRB3	64143272	1.000000	0.71417	0.196000	0.23383	0.071000	0.16799	6.792000	0.75125	2.890000	0.99128	0.655000	0.94253	TCG		TCGA-HZ-A4BH-01A-11D-A26I-08	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	1	0	1	82	510	0	85	0	9.920609e-01	0	48	0	85	2		0	0	0	0	0	2	1	1.000000	80	503	0	84	2								-2.966636	1	1	0	0		1	1	2	3	2.068349	0	0.310000	1.820000	0.312132	0.890000	0.720000	1.000000	1.000000	0.894774	0.890000	1	8.000000e-01	1
COL4A2	1284	broad.mit.edu	37	13	111121596	111121596	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:111121596G>A	ENST00000360467.5	+	28	2434	c.2128G>A	c.(2128-2130)Gca>Aca	p.A710T		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2			80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		CCCAGGCTTCGCAGGAGCTGA	0.572000																								0							SO:0001583	missense			ENST00000360467.5	1	1	hg19	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.888790	0.52014	0.0	1.21E-4	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93604	-3.25	5.57	-5.12	0.02893	.	0.651803	0.13327	N	0.396252	D	0.85457	0.5701	L	0.42686	1.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71048	-0.4705	10	0.30078	T	0.28	.	4.5599	0.12154	0.1987:0.4843:0.1005:0.2165	.	710	P08572	CO4A2_HUMAN	T	710	ENSP00000353654:A710T	ENSP00000257309:A710T	A	+	1	0	COL4A2	109919597	0.000000	0.05858	0.061000	0.19648	0.006000	0.05464	-0.603000	0.05674	-0.842000	0.04195	-1.221000	0.01599	GCA		TCGA-HZ-A4BH-01A-11D-A26I-08	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	1	14	65	0	16	0	1	0	874	0	16	2		0	0	0	0	0	2	1	0.999834	13	65	0	16	2								-11.142240	1	1	120548	5	40	1	1	2	3	2.071293	0	0.310000	1.820000	0.312132	0.990000	0.680000	1.000000	1.000000	0.959614	0.990000	1	8.900000e-01	1
NBEA	26960	broad.mit.edu	37	13	35735929	35735929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:35735929C>T	ENST00000400445.3	+	23	4438	c.3904C>T	c.(3904-3906)Cga>Tga	p.R1302*	NBEA_ENST00000310336.4_Nonsense_Mutation_p.R1302*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.R1302*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R1302*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin			108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)			CCGAGATCTCCGAGTTGATTT	0.433000																								0							SO:0001587	stop_gained			ENST00000400445.3	0	1	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	48	13.944603	0.99771	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	.	.	.	5.04	1.83	0.25207	.	0.156994	0.42548	D	0.000689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3905	0.66975	0.4506:0.5494:0.0:0.0	.	.	.	.	X	1302	.	ENSP00000308534:R1302X	R	+	1	2	NBEA	34633929	0.982000	0.34865	0.995000	0.50966	0.984000	0.73092	0.644000	0.24766	0.481000	0.27557	0.591000	0.81541	CGA		TCGA-HZ-A4BH-01A-11D-A26I-08	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	5	121	0	23	0	0	0	1	0	23	2		0	0	0	0	0	2	1	0.937521	5	120	0	23	2								-3.099096	1	1	0	0		1	1	2	3	2.071293	0	0.310000	1.820000	0.312132	0.270000	0.100000	0.600000	0.250000	0.304966	0.270000	0	1.700000e-01	4.200000e-01
FAM179B	23116	broad.mit.edu	37	14	45431977	45431977	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr14:45431977C>T	ENST00000361577.3	+	1	567	c.353C>T	c.(352-354)gCt>gTt	p.A118V	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A118V|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.A118V	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B			45					GCTTTGCAAGCTGCTTTGCCG	0.617000																								0							SO:0001583	missense			ENST00000361577.3	1	1	hg19	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038206	0.75617	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.56611	0.45;0.45;0.45	4.88	4.88	0.63580	Armadillo-like helical (1);	0.146929	0.31554	N	0.007443	T	0.58235	0.2108	N	0.24115	0.695	0.31602	N	0.6526	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.76071	0.987;0.987;0.987;0.987	T	0.64170	-0.6470	10	0.66056	D	0.02	-11.2912	13.4039	0.60900	0.0:1.0:0.0:0.0	.	118;118;118;118	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	118	ENSP00000355045:A118V;ENSP00000354917:A118V;ENSP00000371668:A118V	ENSP00000354917:A118V	A	+	2	0	FAM179B	44501727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.581000	0.53914	2.526000	0.85167	0.655000	0.94253	GCT		TCGA-HZ-A4BH-01A-11D-A26I-08	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	1	0	0	51	856	0	139	0	1.844637e-02	0	4	0	139	2		0	0	0	0	0	2	1	1.000000	51	847	0	134	2								-7.919481	1	1	0	0		1	0	3	3	2.125584	1	0.310000	1.820000	0.334747	0.380000	0.280000	1.000000	0.380000	0.489637	0.380000	0	3.300000e-01	1
APBA2	321	broad.mit.edu	37	15	29346316	29346316	+	Missense_Mutation	SNP	G	G	A	rs140795962		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:29346316G>A	ENST00000558402.1	+	5	828	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	APBA2_ENST00000411764.1_Missense_Mutation_p.V77M|APBA2_ENST00000558259.1_Missense_Mutation_p.V77M|APBA2_ENST00000558330.1_Missense_Mutation_p.V77M|APBA2_ENST00000561069.1_Missense_Mutation_p.V77M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2			59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)			CTCTGACTACGTGAACAACAC	0.637000																								0							SO:0001583	missense			ENST00000558402.1	1	1	hg19	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904297	0.72868	0.0	1.16E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.52295	0.67	5.25	5.25	0.73442	.	0.145082	0.46145	D	0.000306	T	0.66356	0.2781	M	0.68952	2.095	0.48632	D	0.999683	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.64237	0.923;0.797;0.797	T	0.70099	-0.4965	10	0.87932	D	0	.	17.832	0.88685	0.0:0.0:1.0:0.0	.	77;77;77	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	M	77	ENSP00000409312:V77M	ENSP00000219865:V77M	V	+	1	0	APBA2	27133608	1.000000	0.71417	0.989000	0.46669	0.827000	0.46813	6.796000	0.75145	2.423000	0.82170	0.650000	0.86243	GTG		TCGA-HZ-A4BH-01A-11D-A26I-08	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	1	0	1	123	763	0	160	0	3.641623e-01	0	9	0	160	2		0	0	0	0	0	2	1	1.000000	122	757	1	160	19								-20.000000	1	1	121412	2	39	1	0	1	1	2.056661	0	0.310000	1.820000	0.308929	0.880000	0.740000	1.000000	1.000000	0.893932	0.880000	1	8.100000e-01	9.700000e-01
ZNF267	10308	broad.mit.edu	37	16	31926313	31926313	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:31926313A>G	ENST00000300870.10	+	4	952	c.743A>G	c.(742-744)gAa>gGa	p.E248G		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267			41					AAATGTAAAGAATTTGAGGAA	0.303000																								0							SO:0001583	missense			ENST00000300870.10	0	1	hg19	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.655457	0.29425	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.17528	2.27	0.458	0.458	0.16670	.	.	.	.	.	T	0.16557	0.0398	M	0.63169	1.94	0.26123	N	0.980529	B	0.06786	0.001	B	0.01281	0.0	T	0.27571	-1.0070	9	0.87932	D	0	.	5.2013	0.15267	0.9999:0.0:1.0E-4:0.0	.	248	Q14586	ZN267_HUMAN	G	248;215	ENSP00000300870:E248G	ENSP00000300870:E248G	E	+	2	0	ZNF267	31833814	0.001000	0.12720	0.109000	0.21407	0.096000	0.18686	0.550000	0.23345	0.407000	0.25591	0.397000	0.26171	GAA		TCGA-HZ-A4BH-01A-11D-A26I-08	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	1	0	1	43	243	0	15	1	8.767708e-01	7	16	0	15	2		0	0	0	0	0	2	1	1.000000	43	243	0	15	2								-20.000000	1	1	0	0		1	0	0	0	2.012011	0	0.310000	1.820000	0.292453	0.940000	0.700000	1.000000	1.000000	0.919989	0.940000	1	8.100000e-01	1
AXIN1	8312	broad.mit.edu	37	16	343713	343713	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:343713G>A	ENST00000262320.3	-	8	2332	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1			221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)			CCTCGTCCCCGAAGACCTTGG	0.637000																								0							SO:0001583	missense			ENST00000262320.3	1	1	hg19	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.373947	0.61735	2.27E-4	0.0	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.61742	0.08;0.08	4.17	4.17	0.49024	.	0.309451	0.34853	N	0.003624	T	0.65471	0.2694	M	0.63843	1.955	0.47153	D	0.99933	D;D	0.64830	0.994;0.99	P;P	0.52909	0.713;0.52	T	0.69068	-0.5243	10	0.48119	T	0.1	-21.2179	15.6374	0.76966	0.0:0.0:1.0:0.0	.	654;654	O15169-2;O15169	.;AXIN1_HUMAN	L	654	ENSP00000262320:S654L;ENSP00000346935:S654L	ENSP00000262320:S654L	S	-	2	0	AXIN1	283714	1.000000	0.71417	0.509000	0.27700	0.094000	0.18550	4.945000	0.63568	2.185000	0.69588	0.478000	0.44815	TCG		TCGA-HZ-A4BH-01A-11D-A26I-08	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3	1	0	0	43	524	0	109	1	9.940773e-01	24	72	0	109	2		0	0	0	0	0	2	1	1.000000	42	519	0	108	2								-10.798960	1	1	121370	2	32	1	0	1	1	2.055065	0	0.310000	1.820000	0.308929	0.480000	0.350000	0.630000	0.480000	0.496159	0.480000	0	4.100000e-01	5.700000e-01
HEATR3	55027	broad.mit.edu	37	16	50112735	50112735	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:50112735G>A	ENST00000299192.7	+	7	1038	c.847G>A	c.(847-849)Gtt>Att	p.V283I	HEATR3_ENST00000285767.4_Missense_Mutation_p.V197I	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3			28					CTTATCTGAAGTTTTGGGAAT	0.378000																								0							SO:0001583	missense			ENST00000299192.7	0	1	hg19	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918750	0.73098	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.31769	1.48;1.48	5.74	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);	0.492308	0.24010	N	0.042387	T	0.34919	0.0914	M	0.64997	1.995	0.25653	N	0.986075	P;P	0.50272	0.933;0.501	P;B	0.47251	0.542;0.039	T	0.20140	-1.0284	10	0.29301	T	0.29	.	9.7486	0.40462	0.0742:0.0:0.7542:0.1716	.	197;283	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	I	197;283	ENSP00000285767:V197I;ENSP00000299192:V283I	ENSP00000285767:V197I	V	+	1	0	HEATR3	48670236	0.926000	0.31397	0.779000	0.31741	0.993000	0.82548	1.464000	0.35288	1.569000	0.49696	0.637000	0.83480	GTT		TCGA-HZ-A4BH-01A-11D-A26I-08	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	0	0	0	8	351	0	28	0	1.570797e-01	0	28	0	28	2		0	0	0	0	0	2	1	0.989073	8	348	0	28	2								-8.271699	1	1	0	0		1	0	0	0	2.012011	0	0.310000	1.820000	0.292453	0.140000	0.060000	0.260000	0.140000	0.155799	0.140000	0	9.000000e-02	2.000000e-01
RLTPR	146206	broad.mit.edu	37	16	67682804	67682804	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:67682804G>A	ENST00000334583.6	+	17	1846	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	RLTPR_ENST00000545661.1_Silent_p.S470S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing			18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)			AGCTGCGCTCGGCCGGCGCCC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000334583.6	0	1	hg19	CCDS45513.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	0	0	0	4	78	0	11	0	2.256845e-02	0	4	0	11	2		0	0	0	0	0	2	1	0.889214	4	77	0	11	2								-7.844712	1	1	0	0		1	0	0	0	2.012011	0	0.310000	1.820000	0.292453	0.330000	0.110000	0.690000	0.300000	0.363489	0.330000	0	2.000000e-01	5.100000e-01
ADAD2	161931	broad.mit.edu	37	16	84229512	84229512	+	Missense_Mutation	SNP	G	G	A	rs142081193	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:84229512G>A	ENST00000315906.5	+	7	1196	c.1144G>A	c.(1144-1146)Gtg>Atg	p.V382M	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.V464M|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2			13					TGTGTGCTACGTGGCGCCCTC	0.716000																								0							SO:0001583	missense			ENST00000315906.5	1	1	hg19	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885176	0.33255	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.94280	-3.39;-3.39	5.49	-2.27	0.06846	Adenosine deaminase/editase (2);	0.653207	0.14249	N	0.331597	D	0.86928	0.6051	L	0.53617	1.68	0.31539	N	0.660181	P;P	0.45396	0.857;0.856	B;B	0.33890	0.172;0.114	T	0.81936	-0.0705	10	0.33940	T	0.23	-14.3004	9.5447	0.39273	0.1738:0.6193:0.2068:0.0	.	382;464	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	M	382;464	ENSP00000325153:V382M;ENSP00000268624:V464M	ENSP00000268624:V464M	V	+	1	0	ADAD2	82787013	0.006000	0.16342	0.724000	0.30704	0.475000	0.33008	0.019000	0.13444	-0.237000	0.09739	0.561000	0.74099	GTG		TCGA-HZ-A4BH-01A-11D-A26I-08	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	1	0	0	12	161	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.999194	12	160	0	35	2								-16.876340	1	1	121100	22	41	1	0	0	0	2.037557	0	0.310000	1.820000	0.301337	0.450000	0.240000	0.710000	0.430000	0.466999	0.450000	0	3.300000e-01	5.800000e-01
ABHD15	116236	broad.mit.edu	37	17	27889843	27889843	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:27889843G>A	ENST00000307201.4	-	2	1313	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15			10					GCAGGAGGAAGAAGTAGGGGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000307201.4	1	1	hg19	CCDS32602.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	1	0	0	31	420	0	87	1	7.069741e-01	2	33	0	87	2		0	0	0	0	0	2	1	1.000000	30	416	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.234057	1	0.310000	1.820000	0.355923	0.510000	0.330000	1.000000	0.470000	0.610030	0.510000	0	4.100000e-01	1
OR1D2	4991	broad.mit.edu	37	17	2996105	2996105	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:2996105G>A	ENST00000331459.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2			15					GGTTGGCCAGGAAGAAGTACA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000331459.1	1	1	hg19	CCDS11019.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	1	0	0	81	822	0	159		0	0	0	0	159	2		0	0	0	0	0	2	1	1.000000	79	800	0	159	2								-19.886920	1	1	0	0		1	0	1	1	1.754142	1	0.310000	1.820000	0.183432	0.480000	0.380000	0.590000	0.490000	0.491526	0.480000	0	4.300000e-01	5.400000e-01
OR1A1	8383	broad.mit.edu	37	17	3119669	3119669	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:3119669G>A	ENST00000304094.1	+	1	755	c.755G>A	c.(754-756)gGt>gAt	p.G252D		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1			23					TTGTATTATGGTACAGTCATG	0.498000																								0							SO:0001583	missense			ENST00000304094.1	1	1	hg19	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111392	0.56398	.	.	ENSG00000172146	ENST00000304094	T	0.39229	1.09	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.78748	0.4332	H	0.98333	4.205	0.32665	N	0.517561	D	0.89917	1.0	D	0.97110	1.0	D	0.88672	0.3196	10	0.87932	D	0	.	17.1395	0.86749	0.0:0.0:1.0:0.0	.	252	Q9P1Q5	OR1A1_HUMAN	D	252	ENSP00000305207:G252D	ENSP00000305207:G252D	G	+	2	0	OR1A1	3066419	0.925000	0.31364	1.000000	0.80357	0.607000	0.37147	1.912000	0.39946	2.632000	0.89209	0.511000	0.50034	GGT		TCGA-HZ-A4BH-01A-11D-A26I-08	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	1	0	1	136	646	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1.000000	136	641	0	93	2								-20.000000	1	1	121408	1	32	1	0	1	1	1.754142	1	0.310000	1.820000	0.183432	0.920000	0.790000	1.000000	0.940000	0.918875	0.920000	1	8.500000e-01	9.800000e-01
PRR11	55771	broad.mit.edu	37	17	57270937	57270937	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270937C>T	ENST00000262293.4	+	5	799	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11			16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				TGCCTGCGTTCTGATCACCCC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000262293.4	1	1	hg19	CCDS11614.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	1	0	0	102	623	0	47	1	9.723178e-01	4	33	0	47	2		0	0	0	0	0	2	1	1.000000	88	619	0	47	2								-20.000000	1	0	0	0		1	1	6	7	3.668927	1	0.310000	1.820000	0.611268	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR11	55771	broad.mit.edu	37	17	57270942	57270942	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270942C>G	ENST00000262293.4	+	5	804	c.492C>G	c.(490-492)atC>atG	p.I164M		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11			16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				GCGTTCTGATCACCCCTGGAG	0.537000																								0							SO:0001583	missense			ENST00000262293.4	1	1	hg19	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	6.692	0.496371	0.12762	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.25	1.87	0.25490	.	0.783614	0.11729	N	0.535099	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B	0.32396	0.369	B	0.35073	0.195	T	0.19063	-1.0317	9	0.44086	T	0.13	-9.65	3.8305	0.08873	0.2002:0.5605:0.1516:0.0877	.	164	Q96HE9	PRR11_HUMAN	M	164	.	ENSP00000262293:I164M	I	+	3	3	PRR11	54625724	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.329000	0.19698	0.165000	0.19558	0.561000	0.74099	ATC		TCGA-HZ-A4BH-01A-11D-A26I-08	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	1	0	1	103	614	0	48	1	9.638231e-01	4	30	0	48	2		0	0	0	0	0	2	1	1.000000	87	612	0	48	2								-20.000000	1	0	0	0		1	1	6	7	3.668927	1	0.310000	1.820000	0.611268	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR11	55771	broad.mit.edu	37	17	57271006	57271006	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271006C>A	ENST00000262293.4	+	5	868	c.556C>A	c.(556-558)Cct>Act	p.P186T		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11			16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				CCATTTtcctcctcctcctcc	0.547000																								0							SO:0001583	missense			ENST00000262293.4	0	0	hg19	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174345	0.38413	.	.	ENSG00000068489	ENST00000262293	.	.	.	4.53	3.53	0.40419	.	0.428017	0.22147	N	0.063971	T	0.28863	0.0716	L	0.27053	0.805	0.09310	N	0.999999	P	0.47302	0.893	P	0.44811	0.461	T	0.08126	-1.0737	9	0.59425	D	0.04	-8.2827	10.3157	0.43736	0.0:0.903:0.0:0.097	.	186	Q96HE9	PRR11_HUMAN	T	186	.	ENSP00000262293:P186T	P	+	1	0	PRR11	54625788	0.000000	0.05858	0.009000	0.14445	0.863000	0.49368	0.108000	0.15396	1.000000	0.39049	0.561000	0.74099	CCT		TCGA-HZ-A4BH-01A-11D-A26I-08	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	1	0	1	92	491	0	51	1	9.967791e-01	5	43	0	51	2		0	0	0	0	0	2	1	1.000000	83	516	0	52	2								-20.000000	1	0	0	0		1	1	6	7	3.668927	1	0.310000	1.820000	0.611268	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR11	55771	broad.mit.edu	37	17	57271015	57271015	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271015C>T	ENST00000262293.4	+	5	877	c.565C>T	c.(565-567)Cca>Tca	p.P189S		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11			16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				tcctcctcctccacctccacc	0.542000																								0							SO:0001583	missense			ENST00000262293.4	1	0	hg19	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549872	0.45383	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.5	5.5	0.81552	.	0.098878	0.44902	N	0.000402	T	0.65450	0.2692	L	0.29908	0.895	0.50813	D	0.999894	D	0.71674	0.998	D	0.66979	0.948	T	0.67550	-0.5642	9	0.66056	D	0.02	-3.8599	16.467	0.84081	0.0:1.0:0.0:0.0	.	189	Q96HE9	PRR11_HUMAN	S	189	.	ENSP00000262293:P189S	P	+	1	0	PRR11	54625797	0.908000	0.30866	0.764000	0.31436	0.193000	0.23685	3.741000	0.55090	2.729000	0.93468	0.561000	0.74099	CCA		TCGA-HZ-A4BH-01A-11D-A26I-08	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	1	0	1	91	487	0	60	1	9.941523e-01	3	41	0	60	2		0	0	0	0	0	2	1	1.000000	82	492	0	61	2								-3.144808	1	0	0	0		1	1	6	7	3.668927	1	0.310000	1.820000	0.611268	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR11	55771	broad.mit.edu	37	17	57271016	57271016	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271016C>T	ENST00000262293.4	+	5	878	c.566C>T	c.(565-567)cCa>cTa	p.P189L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11			16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				cctcctcctccacctccacct	0.547000																								0							SO:0001583	missense			ENST00000262293.4	1	0	hg19	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948265	0.34377	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.5	3.47	0.39725	.	0.098878	0.44902	D	0.000402	T	0.45836	0.1362	L	0.29908	0.895	0.58432	D	0.999999	B	0.32101	0.356	B	0.38562	0.276	T	0.43015	-0.9417	9	0.44086	T	0.13	-3.8599	7.6838	0.28528	0.1648:0.7514:0.0:0.0838	.	189	Q96HE9	PRR11_HUMAN	L	189	.	ENSP00000262293:P189L	P	+	2	0	PRR11	54625798	0.901000	0.30685	0.678000	0.29963	0.136000	0.21042	3.741000	0.55090	1.420000	0.47138	0.561000	0.74099	CCA		TCGA-HZ-A4BH-01A-11D-A26I-08	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	1	0	1	93	493	0	60	1	9.945401e-01	3	41	0	60	2		0	0	0	0	0	2	1	1.000000	84	490	0	61	2								-3.145223	1	0	0	0		1	1	6	7	3.668927	1	0.310000	1.820000	0.611268	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PRR11	55771	broad.mit.edu	37	17	57271093	57271093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271093C>T	ENST00000262293.4	+	5	955	c.643C>T	c.(643-645)Cag>Tag	p.Q215*		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11			16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				TAAAGCACTTCAGGTAGGTAA	0.473000																								0							SO:0001587	stop_gained			ENST00000262293.4	0	1	hg19	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127327	0.37533	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.5	5.5	0.81552	.	0.107189	0.41938	D	0.000783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-8.9529	16.467	0.84081	0.0:1.0:0.0:0.0	.	.	.	.	X	215	.	ENSP00000262293:Q215X	Q	+	1	0	PRR11	54625875	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	3.865000	0.56033	2.729000	0.93468	0.561000	0.74099	CAG		TCGA-HZ-A4BH-01A-11D-A26I-08	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	0	0	1	156	572	0	61	1	9.985986e-01	3	35	0	61	2		0	0	0	0	0	2	1	1.000000	154	562	0	60	2								-4.015504	1	0	121412	1	28	1	1	6	7	3.668927	1	0.310000	1.820000	0.611268	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:7578526C>T	ENST00000269305.4	-	5	593	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000420246.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y	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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GGCCAGTTGGCAAAACATCTT	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	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)						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	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639320	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;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;-6.8	5.48	5.48	0.80851	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	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.929;1.0;1.0;1.0;1.0	D	0.97312	0.9938	10	0.87932	D	0	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135Y;ENSP00000352610:C135Y;ENSP00000269305:C135Y;ENSP00000398846:C135Y;ENSP00000391127:C135Y;ENSP00000391478:C135Y;ENSP00000425104:C3Y;ENSP00000423862:C42Y;ENSP00000424104:C135Y	ENSP00000269305:C135Y	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC		TCGA-HZ-A4BH-01A-11D-A26I-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	37	183	0	40	1	9.996891e-01	31	33	0	40	2	1	1	67	256	0	1809	2	1	1.000000	37	182	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.754142	1	0.310000	1.820000	0.183432	0.860000	0.640000	0.990000	0.900000	0.856401	0.860000	1	7.500000e-01	9.500000e-01
COL5A3	50509	broad.mit.edu	37	19	10097024	10097024	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:10097024G>A	ENST00000264828.3	-	30	2404	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3			116			Epithelial(33;7.11e-05)		GCCCCTCCTCGCCAGCCTGCC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000264828.3	1	1	hg19	CCDS12222.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	1	0	0	25	221	0	35	0	4.343563e-01	0	14	0	35	2		0	0	0	0	0	2	1	1.000000	24	210	0	34	2								-20.000000	1	1	121222	2	31	1	1	2	3	2.408486	1	0.310000	1.820000	0.402597	0.760000	0.510000	1.000000	1.000000	0.771331	0.760000	0	6.200000e-01	9.100000e-01
KCNN1	3780	broad.mit.edu	37	19	18099263	18099263	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:18099263C>T	ENST00000222249.9	+	7	1418	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1			8				Miconazole(DB01110)|Procaine(DB00721)	TGTGGTGGCTCGGAAGCTGGA	0.637000																								0							SO:0001583	missense			ENST00000222249.9	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.27	3.795298	0.70452	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.61	4.61	0.57282	Ion transport 2 (1);Calmodulin-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79052	0.4381	M	0.86028	2.79	0.51482	D	0.999927	D	0.89917	1.0	D	0.85130	0.997	T	0.81927	-0.0709	9	0.87932	D	0	-29.1479	10.2569	0.43403	0.1978:0.8022:0.0:0.0	.	367	Q92952	KCNN1_HUMAN	W	384;367	.	ENSP00000222249:R384W	R	+	1	2	KCNN1	17960263	0.920000	0.31207	0.996000	0.52242	0.910000	0.53928	0.876000	0.28092	2.116000	0.64780	0.561000	0.74099	CGG		TCGA-HZ-A4BH-01A-11D-A26I-08	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	1	0	1	34	107	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	1.000000	33	102	0	22	2								-20.000000	1	1	0	0		1	1	2	3	2.378492	1	0.310000	1.820000	0.402597	0.990000	0.990000	1.000000	1.000000	0.999986	0.990000	1	9.900000e-01	1
GRAMD1A	57655	broad.mit.edu	37	19	35500042	35500042	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:35500042C>T	ENST00000317991.5	+	2	220	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R97W|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R10W	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A			19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		CCACTCTGGCCGGAGCACGCC	0.622000																								0							SO:0001583	missense			ENST00000317991.5	1	1	hg19	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	c	15.81	2.944466	0.53079	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.34859	1.36;1.34	4.83	3.79	0.43588	.	0.000000	0.64402	D	0.000002	T	0.43122	0.1233	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.977;0.948;0.977;0.992	T	0.45934	-0.9227	10	0.87932	D	0	.	12.3312	0.55041	0.1697:0.8302:0.0:0.0	.	10;10;10;97	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	W	97;10;10	ENSP00000441032:R10W;ENSP00000439267:R10W	ENSP00000441032:R10W	R	+	1	2	GRAMD1A	40191882	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.429000	0.44758	1.250000	0.43966	0.561000	0.74099	CGG		TCGA-HZ-A4BH-01A-11D-A26I-08	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	0	0	0	47	655	0	112	1	9.814592e-01	14	75	0	112	2		0	0	0	0	0	2	1	1.000000	46	650	0	110	2								-3.075755	1	1	120926	2	34	1	0	1	1	1.820828	1	0.310000	1.820000	0.239250	0.380000	0.280000	0.500000	0.390000	0.397169	0.380000	0	3.300000e-01	4.500000e-01
PRODH2	58510	broad.mit.edu	37	19	36302895	36302895	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302895T>A	ENST00000301175.3	-	5	811	c.794A>T	c.(793-795)gAg>gTg	p.E265V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2			21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		AGCCAGCCTCTCGGGGCTCAG	0.637000																								0							SO:0001583	missense			ENST00000301175.3	1	1	hg19	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922070	0.52653	.	.	ENSG00000250799	ENST00000301175	T	0.05855	3.38	4.86	3.84	0.44239	.	.	.	.	.	T	0.08758	0.0217	L	0.57536	1.79	0.80722	D	1	B	0.34103	0.437	B	0.38616	0.277	T	0.16630	-1.0396	9	0.33940	T	0.23	.	7.7224	0.28740	0.3387:0.0:0.0:0.6613	.	265	Q9UF12	PROD2_HUMAN	V	265	ENSP00000301175:E265V	ENSP00000301175:E265V	E	-	2	0	PRODH2	40994735	0.997000	0.39634	0.565000	0.28409	0.819000	0.46315	4.364000	0.59479	0.977000	0.38444	0.533000	0.62120	GAG		TCGA-HZ-A4BH-01A-11D-A26I-08	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	1	0	0	16	259	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	0.999937	16	257	0	67	2								-19.012940	1	1	0	0		1	0	1	1	1.820828	1	0.310000	1.820000	0.239250	0.340000	0.200000	0.520000	0.340000	0.354987	0.340000	0	2.600000e-01	4.300000e-01
PRODH2	58510	broad.mit.edu	37	19	36302896	36302896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302896C>A	ENST00000301175.3	-	5	810	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2			21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		GCCAGCCTCTCGGGGCTCAGC	0.637000																								0							SO:0001587	stop_gained			ENST00000301175.3	0	1	hg19	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398174	0.96030	.	.	ENSG00000250799	ENST00000301175	.	.	.	4.86	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	10.2938	0.43612	0.0:0.8654:0.0:0.1346	.	.	.	.	X	265	.	ENSP00000301175:E265X	E	-	1	0	PRODH2	40994736	0.346000	0.24844	0.463000	0.27130	0.810000	0.45777	1.290000	0.33319	0.785000	0.33685	0.655000	0.94253	GAG		TCGA-HZ-A4BH-01A-11D-A26I-08	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	1	0	0	17	257	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	0.999968	17	255	0	67	2								-3.222690	1	1	0	0		1	0	1	1	1.820828	1	0.310000	1.820000	0.239250	0.360000	0.220000	0.550000	0.360000	0.377214	0.360000	0	2.800000e-01	4.600000e-01
PRODH2	58510	broad.mit.edu	37	19	36303115	36303115	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36303115C>A	ENST00000301175.3	-	4	676	c.659G>T	c.(658-660)gGc>gTc	p.G220V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2			21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		CTCCAGGAGGCCCCGTGACAG	0.652000																								0							SO:0001583	missense			ENST00000301175.3	1	1	hg19	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	1.117	-0.656468	0.03480	.	.	ENSG00000250799	ENST00000301175	T	0.27557	1.66	4.85	-0.471	0.12119	.	.	.	.	.	T	0.21962	0.0529	L	0.51422	1.61	0.20307	N	0.999911	B	0.27625	0.183	B	0.22386	0.039	T	0.25502	-1.0130	9	0.54805	T	0.06	.	2.2746	0.04099	0.1245:0.4534:0.1295:0.2926	.	220	Q9UF12	PROD2_HUMAN	V	220	ENSP00000301175:G220V	ENSP00000301175:G220V	G	-	2	0	PRODH2	40994955	0.521000	0.26258	0.004000	0.12327	0.020000	0.10135	0.698000	0.25571	-0.384000	0.07845	-0.797000	0.03246	GGC		TCGA-HZ-A4BH-01A-11D-A26I-08	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	1	0	0	42	393	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1.000000	42	388	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.820828	1	0.310000	1.820000	0.239250	0.560000	0.410000	0.730000	0.560000	0.571589	0.560000	0	4.800000e-01	6.500000e-01
PLD3	23646	broad.mit.edu	37	19	40882579	40882579	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:40882579C>T	ENST00000409587.1	+	11	1480	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	PLD3_ENST00000409735.4_Silent_p.R361R|PLD3_ENST00000409281.1_Silent_p.R361R|PLD3_ENST00000356508.5_Silent_p.R361R|PLD3_ENST00000409419.1_Silent_p.R361R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3			20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		TCAAGGTGCGCCTGCTCATCA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000409587.1	1	1	hg19	CCDS33027.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	0	0	1	79	316	0	90	1	1	94	576	0	90	2		0	0	0	0	0	2	1	1.000000	79	311	0	89	2								-20.000000	1	1	0	0		1	0	0	0	1.903023	0	0.310000	1.820000	0.252033	0.990000	0.960000	1.000000	1.000000	0.997783	0.990000	1	9.900000e-01	1
ERCC2	2068	broad.mit.edu	37	19	45860929	45860929	+	Silent	SNP	G	G	A	rs142702501	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:45860929G>A	ENST00000391945.4	-	13	1343	c.1266C>T	c.(1264-1266)gaC>gaT	p.D422D	ERCC2_ENST00000391944.3_Silent_p.D344D	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2			9		Ovarian(192;0.0728)|all_neural(266;0.112)			GGGTTCTGTCGTCAAAGGGCT	0.627000			Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)		E	0							SO:0001819	synonymous_variant	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	ENST00000391945.4	1	0	hg19	CCDS33049.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	1	0	0	49	521	0	58	1	9.989058e-01	16	93	0	58	2		0	0	0	0	0	2	1	1.000000	49	517	0	57	2								-13.704700	1	1	121412	41	49	1	1	7	8	3.787199	1	0.310000	1.820000	0.633661	0.990000	0.780000	1.000000	1.000000	0.969189	0.990000	1	9.100000e-01	1
CCDC61	729440	broad.mit.edu	37	19	46506729	46506729	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:46506729C>T	ENST00000595358.1	+	3	250	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CCDC61_ENST00000594087.1_Silent_p.F67F|CCDC61_ENST00000536603.1_Silent_p.F67F|CCDC61_ENST00000263284.2_Silent_p.F124F	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61			13		all_neural(266;0.113)|Ovarian(192;0.127)			TCAACATCTTCTGTCATATGC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000595358.1	1	1	hg19	CCDS46120.2																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	1	0	1	37	156	0	24	1	9.999139e-01	3	61	0	24	2		0	0	0	0	0	2	1	1.000000	36	154	0	24	2								-20.000000	1	1	0	0		1						0.310000	1.820000									0	0
MAP2K7	5609	broad.mit.edu	37	19	7976364	7976364	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:7976364C>T	ENST00000397979.3	+	9	1034	c.980C>T	c.(979-981)aCg>aTg	p.T327M	MAP2K7_ENST00000397983.3_Missense_Mutation_p.T343M|MAP2K7_ENST00000545011.1_Missense_Mutation_p.T369M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.T334M|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7			19					AACTGCAAGACGGACTTTGAG	0.592000																								0							SO:0001583	missense			ENST00000397979.3	1	1	hg19	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819928	0.90873	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.53780	1.695	0.80722	D	1	D;D	0.61697	0.978;0.99	P;P	0.56751	0.507;0.805	T	0.02156	-1.1204	10	0.87932	D	0	-9.4511	15.8291	0.78739	0.0:1.0:0.0:0.0	.	334;327	O14733-4;O14733	.;MP2K7_HUMAN	M	334;343;369;343;327	ENSP00000381068:T334M;ENSP00000381070:T343M;ENSP00000443946:T369M;ENSP00000381066:T327M	ENSP00000381066:T327M	T	+	2	0	MAP2K7	7882364	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.697000	0.54764	2.675000	0.91044	0.655000	0.94253	ACG		TCGA-HZ-A4BH-01A-11D-A26I-08	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1	1	0	1	53	157	0	45	1	9.997191e-01	15	25	0	45	2		0	0	0	0	0	2	1	1.000000	53	154	0	45	2								-20.000000	1	1	0	0		1	0	1	1	1.754381	1	0.310000	1.820000	0.184927	0.970000	0.850000	1.000000	1.000000	0.966691	0.970000	1	9.200000e-01	1
NTNG1	22854	broad.mit.edu	37	1	107979392	107979392	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:107979392C>T	ENST00000370068.1	+	7	2207	c.1361C>T	c.(1360-1362)cCg>cTg	p.P454L	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.P454L|NTNG1_ENST00000370073.2_Missense_Mutation_p.P454L|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.P420L|NTNG1_ENST00000370071.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1			37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)			GAGTGTCTGCCGGGAAATTCC	0.517000																								0							SO:0001583	missense			ENST00000370068.1	1	1	hg19	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274201	0.59649	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370061;ENST00000370064;ENST00000370062;ENST00000370068	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.87	5.87	0.94306	EGF-like, laminin (3);	0.000000	0.64402	D	0.000017	T	0.64034	0.2562	M	0.84773	2.715	0.80722	D	1	D;P	0.53462	0.96;0.935	P;P	0.46940	0.532;0.449	T	0.64972	-0.6281	10	0.30078	T	0.28	.	16.7906	0.85589	0.0:0.8715:0.1285:0.0	.	420;454	B4DKF0;Q9Y2I2	.;NTNG1_HUMAN	L	454;454;420;257;201;454	ENSP00000359090:P454L;ENSP00000440561:P454L;ENSP00000359078:P420L;ENSP00000359085:P454L	ENSP00000359078:P420L	P	+	2	0	NTNG1	107780915	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.584000	0.60971	2.941000	0.99782	0.655000	0.94253	CCG		TCGA-HZ-A4BH-01A-11D-A26I-08	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	1	0	1	32	178	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1.000000	31	177	0	29	2								-3.037354	1	1	0	0		1	1	2	3	2.068002	0	0.310000	1.820000	0.312132	0.980000	0.700000	1.000000	1.000000	0.935610	0.980000	1	8.300000e-01	1
WDR47	22911	broad.mit.edu	37	1	109560150	109560150	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:109560150C>A	ENST00000369962.3	-	3	454	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	WDR47_ENST00000361054.3_Intron|WDR47_ENST00000369965.4_Missense_Mutation_p.D78Y|WDR47_ENST00000357672.3_Intron|WDR47_ENST00000400794.3_Missense_Mutation_p.D78Y			O94967	WDR47_HUMAN	WD repeat domain 47			20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)			CTTTTTTTGTCAAATTTTTCC	0.289000																								0							SO:0001583	missense			ENST00000369962.3	0	1	hg19	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564866	0.86439	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000529074;ENST00000528747	T;T;T	0.60171	0.23;0.25;0.21	5.97	5.97	0.96955	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.995;0.995;0.998	T	0.72510	-0.4271	10	0.87932	D	0	-14.641	20.4239	0.99064	0.0:1.0:0.0:0.0	.	78;78;78	A8MX09;O94967;O94967-3	.;WDR47_HUMAN;.	Y	78;78;78;78;5;78	ENSP00000383599:D78Y;ENSP00000358979:D78Y;ENSP00000358982:D78Y	ENSP00000358979:D78Y	D	-	1	0	WDR47	109361673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.466000	0.80914	2.828000	0.97474	0.655000	0.94253	GAC		TCGA-HZ-A4BH-01A-11D-A26I-08	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	1	0	1	47	310	0	20	0	2.914210e-01	1	7	0	20	2		0	0	0	0	0	2	1	1.000000	47	307	0	20	2								-3.318982	1	1	0	0		1	1	2	3	2.068002	0	0.310000	1.820000	0.312132	0.850000	0.640000	1.000000	1.000000	0.854115	0.850000	1	7.400000e-01	9.800000e-01
PRAMEF4	400735	broad.mit.edu	37	1	12943068	12943068	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:12943068G>A	ENST00000235349.5	-	2	218	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	p.R50C(1)		24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)			GCCTCACAGCGTCTCCTGCTG	0.607000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000235349.5	1	1	hg19	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	g	5.461	0.270195	0.10349	.	.	ENSG00000243073	ENST00000235349	T	0.04970	3.52	1.48	1.48	0.22813	.	0.786987	0.11561	N	0.551731	T	0.05686	0.0149	L	0.38838	1.175	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31110	-0.9955	10	0.54805	T	0.06	.	6.4564	0.21932	0.0:0.0:1.0:0.0	.	50	O60810	PRAM4_HUMAN	C	50	ENSP00000235349:R50C	ENSP00000235349:R50C	R	-	1	0	PRAMEF4	12865655	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.224000	0.17738	1.137000	0.42214	0.400000	0.26472	CGC		TCGA-HZ-A4BH-01A-11D-A26I-08	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	1	0	0	79	766	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	1.000000	56	560	0	147	2								-2.966611	1	1	120658	15	45	1	0	1	1	1.905258	0	0.310000	1.820000	0.250774	0.550000	0.440000	0.670000	0.550000	0.559210	0.550000	0	4.900000e-01	6.200000e-01
KDM5B	10765	broad.mit.edu	37	1	202714993	202714993	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:202714993C>T	ENST00000367265.3	-	16	3480	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K	KDM5B_ENST00000367264.2_Silent_p.K808K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B			6					TACTTTTCTTCTTGTTGATCT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000367265.3	1	1	hg19	CCDS30974.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	1	0	0	73	813	0	81	1	8.689619e-01	7	35	0	81	2		0	0	0	0	0	2	1	1.000000	73	805	0	81	2								-16.528350	1	1	0	0		1	0	2	2	2.041686	1	0.310000	1.820000	0.310000	0.550000	0.420000	1.000000	0.530000	0.644935	0.550000	0	4.800000e-01	1
DISC1	27185	broad.mit.edu	37	1	231830151	231830151	+	Missense_Mutation	SNP	C	C	T	rs139420445	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:231830151C>T	ENST00000602281.1	+	2	700	c.647C>T	c.(646-648)tCg>tTg	p.S216L	TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.S216L|DISC1_ENST00000537876.1_Missense_Mutation_p.S216L|DISC1_ENST00000317586.4_Missense_Mutation_p.S216L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Missense_Mutation_p.S216L|DISC1_ENST00000539444.1_Missense_Mutation_p.S216L|DISC1_ENST00000535983.1_Missense_Mutation_p.S216L|DISC1_ENST00000366636.4_Missense_Mutation_p.S216L	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1			15		all_cancers(173;0.0208)|Prostate(94;0.0975)			ATTCGGCTCTCGCTTGGCTCT	0.607000																								0							SO:0001583	missense			ENST00000602281.1	1	1	hg19	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314498	0.40996	6.81E-4	0.0	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.61	3.69	0.42338	.	0.354936	0.29900	N	0.010911	T	0.49406	0.1555	L	0.59436	1.845	0.28799	N	0.898879	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.846;0.998;0.998;0.997;0.998;0.999;0.998;0.998;0.998;0.998;0.933;0.997;0.997;0.998;0.998;0.997;0.997;0.998;0.997;0.997;0.933	T	0.45934	-0.9227	10	0.87932	D	0	-6.3648	11.6928	0.51525	0.0:0.8064:0.1936:0.0	.	216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216;216	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	L	216;216;216;216;216;216;216;216;216;216;216;216;67	ENSP00000403888:S216L;ENSP00000320784:S216L;ENSP00000355596:S216L;ENSP00000443996:S216L;ENSP00000440909:S216L;ENSP00000355593:S216L;ENSP00000440953:S216L;ENSP00000295051:S216L;ENSP00000441193:S216L	ENSP00000295051:S216L	S	+	2	0	DISC1	229896774	0.940000	0.31905	0.056000	0.19401	0.071000	0.16799	2.506000	0.45433	1.127000	0.42034	0.561000	0.74099	TCG		TCGA-HZ-A4BH-01A-11D-A26I-08	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	1	0	0	28	368	0	75	0	2.943613e-02	0	4	0	75	2		0	0	0	0	0	2	1	1.000000	28	365	0	74	2								-3.318792	1	1	121412	7	42	1	1	2	3	2.382850	1	0.310000	1.820000	0.402597	0.520000	0.360000	0.730000	0.520000	0.540927	0.520000	0	4.300000e-01	6.300000e-01
CHML	1122	broad.mit.edu	37	1	241799053	241799053	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:241799053G>A	ENST00000366553.1	-	1	179	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)			26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		AACTCTGTGGGAAGATTGTCC	0.433000																								0							SO:0001583	missense			ENST00000366553.1	1	1	hg19	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674542	0.47781	.	.	ENSG00000203668	ENST00000366553	T	0.59224	0.28	5.14	5.14	0.70334	.	0.000000	0.85682	U	0.000000	T	0.74816	0.3766	.	.	.	0.41587	D	0.988775	D	0.89917	1.0	D	0.97110	1.0	T	0.76405	-0.2971	9	0.59425	D	0.04	-8.0953	14.3144	0.66437	0.0:0.0:1.0:0.0	.	6	P26374	RAE2_HUMAN	S	6	ENSP00000355511:P6S	ENSP00000355511:P6S	P	-	1	0	CHML	239865676	1.000000	0.71417	0.959000	0.39883	0.543000	0.35085	4.210000	0.58500	2.840000	0.97914	0.655000	0.94253	CCC		TCGA-HZ-A4BH-01A-11D-A26I-08	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	1	0	0	35	523	0	38	0	3.223040e-01	1	17	0	38	2		0	0	0	0	0	2	1	1.000000	33	516	0	37	2								-7.981680	1	1	0	0		1	1	2	3	2.382850	1	0.310000	1.820000	0.402597	0.460000	0.330000	0.630000	0.460000	0.477760	0.460000	0	3.900000e-01	5.500000e-01
EXO1	9156	broad.mit.edu	37	1	242030320	242030320	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:242030320C>T	ENST00000366548.3	+	11	1823	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	EXO1_ENST00000518483.1_Silent_p.L410L|EXO1_ENST00000348581.5_Silent_p.L410L	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1			45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		GGTTAAATCTCCCAAGGAAAT	0.408000								Editing and processing nucleases																0							SO:0001819	synonymous_variant			ENST00000366548.3	0	1	hg19	CCDS1620.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	0	0	0	11	302	0	39	0	6.594001e-02	0	11	0	39	2		0	0	0	0	0	2	1	0.998292	11	298	0	39	2								-11.734300	1	1	0	0		1	1	2	3	2.382850	1	0.310000	1.820000	0.402597	0.260000	0.130000	0.440000	0.270000	0.282525	0.260000	0	1.900000e-01	3.600000e-01
GJB4	127534	broad.mit.edu	37	1	35227279	35227279	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:35227279G>A	ENST00000339480.1	+	2	794	c.424G>A	c.(424-426)Gat>Aat	p.D142N	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa			16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)			GGCCGCCGTGGATGCTGGCTT	0.612000																								0							SO:0001583	missense			ENST00000339480.1	1	1	hg19	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436444	0.62955	.	.	ENSG00000189433	ENST00000339480	D	0.95724	-3.79	5.73	4.82	0.62117	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	M	0.81112	2.525	0.47153	D	0.999335	D	0.76494	0.999	D	0.73708	0.981	D	0.98052	1.0388	10	0.87932	D	0	.	14.4153	0.67145	0.0715:0.0:0.9285:0.0	.	142	Q9NTQ9	CXB4_HUMAN	N	142	ENSP00000345868:D142N	ENSP00000345868:D142N	D	+	1	0	GJB4	34999866	1.000000	0.71417	0.136000	0.22124	0.034000	0.12701	7.966000	0.87956	1.440000	0.47531	0.655000	0.94253	GAT		TCGA-HZ-A4BH-01A-11D-A26I-08	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	1	0	0	47	246	0	50	1	9.999922e-01	53	42	0	50	2		0	0	0	0	0	2	1	1.000000	44	243	0	50	2								-20.000000	1	1	121412	2	29	1	0	1	1	1.899383	1	0.310000	1.820000	0.252033	0.940000	0.710000	1.000000	1.000000	0.925772	0.940000	1	8.200000e-01	1
C1orf173	0	broad.mit.edu	37	1	75036840	75036840	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:75036840G>A	ENST00000326665.5	-	14	4772	c.4554C>T	c.(4552-4554)agC>agT	p.S1518S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN				184					CTGCAGTCTCGCTTTCTCCTT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000326665.5	1	1	hg19	CCDS30755.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1	0	0	0	25	836	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1.000000	25	832	0	131	2								-2.827852	1	1	0	0		1	0	1	1	1.935132	0	0.310000	1.820000	0.263175	0.170000	0.110000	0.250000	0.170000	0.181427	0.170000	0	1.400000e-01	2.200000e-01
BAGE2	85319	broad.mit.edu	37	21	11058247	11058247	+	RNA	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr21:11058247G>A	ENST00000470054.1	-	0	400							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2						Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)		TGCAGCACAAGGATAATGATA	0.433000																								0											ENST00000470054.1	0	1	hg19																																																																																					TCGA-HZ-A4BH-01A-11D-A26I-08	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	0	0	0	22	581	1	68		0	0	0	1	68	2	0	9.782009e-02	7	188	12	432	12	0	0.522537	20	567	1	87	22								-2.676343	1	1	0	0		1	0	3	3	1.976330	1	0.310000	1.820000	0.402597	0.270000	0.170000	0.400000	0.270000	0.282584	0.270000	0	2.100000e-01	3.400000e-01
CLTCL1	8218	broad.mit.edu	37	22	19184149	19184149	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:19184149C>T	ENST00000263200.10	-	25	3964	c.3892G>A	c.(3892-3894)Gag>Aag	p.E1298K	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1298K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1298K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1			49	Colorectal(54;0.0993)				AAGATCAGCTCCTCAAAGTAG	0.612000			T	?	ALCL										Dom	yes		22	22q11.21	8218	clathrin, heavy polypeptide-like 1		L	0							SO:0001583	missense			ENST00000263200.10	0	1	hg19	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921732	0.73213	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.35048	1.33;1.33;1.33	3.5	3.5	0.40072	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.67126	0.2860	M	0.93106	3.38	0.80722	D	1	P;D;P;P	0.59767	0.528;0.986;0.882;0.745	P;D;P;P	0.70016	0.628;0.967;0.852;0.677	T	0.78370	-0.2230	10	0.87932	D	0	-16.3906	15.1691	0.72854	0.0:1.0:0.0:0.0	.	1298;121;121;1298	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	K	1298	ENSP00000439662:E1298K;ENSP00000445677:E1298K;ENSP00000441158:E1298K	ENSP00000445677:E1298K	E	-	1	0	CLTCL1	17564149	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	5.268000	0.65536	1.802000	0.52723	0.491000	0.48974	GAG		TCGA-HZ-A4BH-01A-11D-A26I-08	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	1	0	0	9	112	0	12	0	5.931435e-02	0	5	0	12	2		0	0	0	0	0	2	1	0.994590	9	111	0	12	2								-13.966830	1	1	0	0		1	0	1	1	1.912810	0	0.310000	1.820000	0.253287	0.450000	0.220000	0.760000	0.430000	0.472892	0.450000	0	3.200000e-01	6.100000e-01
CCDC116	164592	broad.mit.edu	37	22	21991276	21991276	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:21991276G>T	ENST00000292779.3	+	5	1920	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116			22	Colorectal(54;0.105)				TGAGGGCCGTGATAAAGCCGA	0.557000																								0							SO:0001583	missense			ENST00000292779.3	1	1	hg19	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360852	0.24598	.	.	ENSG00000161180	ENST00000292779	T	0.12255	2.7	3.35	2.3	0.28687	.	3.410210	0.00674	N	0.000657	T	0.25195	0.0612	.	.	.	0.09310	N	1	D	0.60160	0.987	P	0.52217	0.693	T	0.13602	-1.0503	9	0.62326	D	0.03	-3.8567	8.4003	0.32581	0.0:0.2736:0.7264:0.0	.	587	Q8IYX3-2	.	Y	587	ENSP00000292779:D587Y	ENSP00000292779:D587Y	D	+	1	0	CCDC116	20321276	0.019000	0.18553	0.002000	0.10522	0.004000	0.04260	1.152000	0.31663	0.706000	0.31912	0.491000	0.48974	GAT		TCGA-HZ-A4BH-01A-11D-A26I-08	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	1	0	0	32	413	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1.000000	32	409	0	72	2								-8.777760	1	1	0	0		1	0	1	1	1.912810	0	0.310000	1.820000	0.253287	0.420000	0.290000	0.580000	0.420000	0.437211	0.420000	0	3.500000e-01	5.100000e-01
KCNJ4	3761	broad.mit.edu	37	22	38823340	38823340	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:38823340G>A	ENST00000303592.3	-	2	1056	c.798C>T	c.(796-798)gaC>gaT	p.D266D	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4			23	Melanoma(58;0.0286)				GGCTGTCCTCGTCGATCTCGT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000303592.3	1	1	hg19	CCDS13971.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	1	0	0	22	244	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	0.999999	22	243	0	48	2								-20.000000	1	1	121412	4	38	1	0	1	1	1.894235	1	0.310000	1.820000	0.248243	0.490000	0.310000	0.700000	0.490000	0.502433	0.490000	0	3.900000e-01	6.000000e-01
IL1RN	3557	broad.mit.edu	37	2	113885304	113885304	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:113885304A>T	ENST00000409930.3	+	1	167	c.103A>T	c.(103-105)Atg>Ttg	p.M35L	IL1RN_ENST00000259206.5_Missense_Mutation_p.M38L|IL1RN_ENST00000409052.1_Start_Codon_SNP_p.M1L|IL1RN_ENST00000361779.3_Start_Codon_SNP_p.M1L|IL1RN_ENST00000354115.2_Missense_Mutation_p.M17L	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist			10				Rilonacept(DB06372)	ATCCAGCAAGATGCAAGCCTT	0.562000									Lichen Sclerosis et Atrophicus, Familial Clustering of															0							SO:0001583	missense	Familial Cancer Database	Lichen Sclerosis, Familial	ENST00000409930.3	1	1	hg19	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878314	0.51801	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.35973	1.28;1.28;3.02;3.02;3.02	5.24	5.24	0.73138	.	0.361602	0.37809	N	0.001934	T	0.34919	0.0914	M	0.63428	1.95	0.33072	D	0.535518	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.42649	-0.9439	10	0.27785	T	0.31	-24.0838	11.8146	0.52202	1.0:0.0:0.0:0.0	.	35;17;38	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	L	1;1;38;17;35	ENSP00000387210:M1L;ENSP00000354816:M1L;ENSP00000259206:M38L;ENSP00000329072:M17L;ENSP00000387173:M35L	ENSP00000259206:M38L	M	+	1	0	IL1RN	113601775	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.129000	0.57957	2.104000	0.64026	0.533000	0.62120	ATG		TCGA-HZ-A4BH-01A-11D-A26I-08	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	1	0	1	38	303	0	55	1	9.999985e-01	61	104	0	55	2		0	0	0	0	0	2	1	1.000000	38	299	0	55	2								-20.000000	1	1	0	0		1	1	2	3	2.064020	0	0.310000	1.820000	0.312132	0.720000	0.520000	0.990000	0.710000	0.733196	0.720000	0	6.100000e-01	8.400000e-01
TPO	7173	broad.mit.edu	37	2	1520713	1520713	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:1520713C>T	ENST00000345913.4	+	15	2668	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	TPO_ENST00000382198.1_Silent_p.I686I|TPO_ENST00000329066.4_Silent_p.I859I|TPO_ENST00000382201.3_Silent_p.I802I|TPO_ENST00000337415.3_Silent_p.I859I|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.I686I|TPO_ENST00000346956.3_Silent_p.I815I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase			95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTGCTGATCGGAGGCTTCG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000345913.4	1	1	hg19	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	0.144	-1.099164	0.01843	.	.	ENSG00000115705	ENST00000446278	.	.	.	5.52	-5.29	0.02747	.	.	.	.	.	T	0.26702	0.0653	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	-27.4266	6.7432	0.23447	0.0:0.3461:0.3029:0.3509	.	.	.	.	L	334	.	.	S	+	2	0	TPO	1499720	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.732000	0.00804	-1.770000	0.01295	-0.904000	0.02843	TCG		TCGA-HZ-A4BH-01A-11D-A26I-08	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	1	25	235	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1.000000	25	235	0	43	2								-3.318795	1	1	121402	4	38	1	0	1	1	2.053131	0	0.310000	1.820000	0.308929	0.620000	0.410000	0.860000	0.620000	0.633629	0.620000	0	5.100000e-01	7.500000e-01
KCNS3	3790	broad.mit.edu	37	2	18112314	18112314	+	Silent	SNP	C	C	T	rs35186900	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:18112314C>T	ENST00000403915.1	+	3	490	c.39C>T	c.(37-39)gaC>gaT	p.D13D	KCNS3_ENST00000304101.4_Silent_p.D13D|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3			32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				CTGGACAAGACGAGGAACTTG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000403915.1	1	0	hg19	CCDS1692.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	0	0	1	69	408	0	54	1	6.622274e-01	2	13	0	54	2		0	0	0	0	0	2	1	1.000000	68	404	0	54	2								-3.047587	1	1	121412	2842	67	1	0	1	1	2.053131	0	0.310000	1.820000	0.308929	0.920000	0.730000	1.000000	1.000000	0.919127	0.920000	1	8.200000e-01	1
NBEAL1	65065	broad.mit.edu	37	2	204009874	204009874	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204009874C>T	ENST00000449802.1	+	32	5541	c.5208C>T	c.(5206-5208)ctC>ctT	p.L1736L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1			37					AAAGCAAGCTCAAATTTCAGG	0.333000																								0							SO:0001819	synonymous_variant			ENST00000449802.1	0	1	hg19	CCDS46495.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4	1	0	0	21	348	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	0.999997	21	344	0	21	2								-5.024666	1	1	0	0		1	1	2	3	2.064020	0	0.310000	1.820000	0.312132	0.370000	0.230000	0.570000	0.370000	0.387534	0.370000	0	2.900000e-01	4.600000e-01
DYSF	8291	broad.mit.edu	37	2	71741003	71741003	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:71741003T>A	ENST00000258104.3	+	6	892	c.615T>A	c.(613-615)agT>agA	p.S205R	DYSF_ENST00000429174.2_Missense_Mutation_p.S205R|DYSF_ENST00000410020.3_Missense_Mutation_p.S237R|DYSF_ENST00000413539.2_Missense_Mutation_p.S236R|DYSF_ENST00000409762.1_Missense_Mutation_p.S236R|DYSF_ENST00000409651.1_Missense_Mutation_p.S237R|DYSF_ENST00000409744.1_Missense_Mutation_p.S206R|DYSF_ENST00000409582.3_Missense_Mutation_p.S236R|DYSF_ENST00000409366.1_Missense_Mutation_p.S206R|DYSF_ENST00000394120.2_Missense_Mutation_p.S206R|DYSF_ENST00000410041.1_Missense_Mutation_p.S237R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin			111					GAAAGCGAAGTGCGCCTACAT	0.582000																								0							SO:0001583	missense			ENST00000258104.3	1	1	hg19	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	0.964	-0.702308	0.03255	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.68;-1.67;-1.68;-1.67;-1.67;-1.67;-1.68;-1.68	4.79	0.606	0.17559	.	0.256158	0.39475	N	0.001360	T	0.67590	0.2909	N	0.16478	0.41	0.20307	N	0.999918	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.19445	0.036;0.036;0.036;0.02;0.0;0.0;0.0;0.0;0.036;0.0;0.02;0.02;0.036;0.012	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31290	0.127;0.127;0.127;0.088;0.003;0.001;0.003;0.005;0.127;0.002;0.088;0.127;0.127;0.06	T	0.52756	-0.8533	10	0.17832	T	0.49	-14.3939	7.9678	0.30109	0.0:0.5926:0.0:0.4074	.	237;237;206;206;237;206;236;205;236;236;205;205;206;205	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	R	236;236;236;205;205;237;206;206;206;237;237	ENSP00000407046:S236R;ENSP00000387137:S236R;ENSP00000386547:S236R;ENSP00000398305:S205R;ENSP00000258104:S205R;ENSP00000386683:S237R;ENSP00000377678:S206R;ENSP00000386285:S206R;ENSP00000386512:S206R;ENSP00000386881:S237R;ENSP00000386617:S237R	ENSP00000258104:S205R	S	+	3	2	DYSF	71594511	0.086000	0.21541	0.034000	0.17996	0.020000	0.10135	0.392000	0.20801	-0.114000	0.11936	-0.384000	0.06662	AGT		TCGA-HZ-A4BH-01A-11D-A26I-08	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	1	0	0	17	277	0	63	0	4.870360e-02	0	6	0	63	2		0	0	0	0	0	2	1	0.999960	16	269	0	63	2								-19.652540	1	1	0	0		1	1	2	3	2.064020	0	0.310000	1.820000	0.312132	0.380000	0.220000	0.610000	0.370000	0.396573	0.380000	0	2.900000e-01	4.800000e-01
MYLK	4638	broad.mit.edu	37	3	123383037	123383037	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:123383037C>T	ENST00000475616.1	-	20	3899	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000360772.3_Silent_p.A1300A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000346322.5_Silent_p.A1231A|MYLK_ENST00000360304.3_Silent_p.A1300A			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			GCTCCTGGCGCGCGGCCAGGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000475616.1	1	1	hg19	CCDS46896.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	0	109	1320	0	225	0	9.360167e-01	0	57	0	225	2		0	0	0	0	0	2	1	1.000000	108	1305	0	218	2								-19.949160	1	1	121412	7	43	1	0	0	0	2.035354	0	0.310000	1.820000	0.301337	0.480000	0.390000	0.570000	0.480000	0.488988	0.480000	0	4.300000e-01	5.300000e-01
RYBP	23429	broad.mit.edu	37	3	72427709	72427709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:72427709C>T	ENST00000477973.2	-	4	778	c.779G>A	c.(778-780)aGa>aAa	p.R260K		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein			2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)			TCCTTAAAGTCTGTGATAATG	0.552000																								0							SO:0001583	missense			ENST00000477973.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	27.5	4.834301	0.91036	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	T	0.79482	0.4453	M	0.66939	2.045	.	.	.	.	.	.	.	.	.	T	0.75534	-0.3284	4	.	.	.	-15.2615	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	K	260	.	.	R	-	2	0	RYBP	72510399	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.937000	0.99478	0.650000	0.86243	AGA		TCGA-HZ-A4BH-01A-11D-A26I-08	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	1	0	1	47	238	0	51	1	9.974967e-01	8	41	0	51	2		0	0	0	0	0	2	1	1.000000	47	236	0	51	2								-20.000000	1	1	0	0		1	0	0	0	2.035354	0	0.310000	1.820000	0.301337	0.990000	0.790000	1.000000	1.000000	0.969222	0.990000	1	9.100000e-01	1
GPR15	2838	broad.mit.edu	37	3	98251438	98251438	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:98251438G>C	ENST00000284311.3	+	1	696	c.561G>C	c.(559-561)aaG>aaC	p.K187N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	p.K187N(1)		19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)			CAGAGAAAAAGGCAACTCCAA	0.473000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000284311.3	1	1	hg19	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.809317	0.00606	.	.	ENSG00000154165	ENST00000284311	T	0.39592	1.07	4.74	-5.96	0.02234	GPCR, rhodopsin-like superfamily (1);	1.101080	0.06952	N	0.814708	T	0.25158	0.0611	N	0.24115	0.695	0.09310	N	1	B	0.26147	0.143	B	0.24394	0.053	T	0.22765	-1.0207	10	0.27082	T	0.32	-0.0397	10.5559	0.45117	0.7354:0.1051:0.1594:0.0	.	187	P49685	GPR15_HUMAN	N	187	ENSP00000284311:K187N	ENSP00000284311:K187N	K	+	3	2	GPR15	99734128	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.676000	0.01946	-1.282000	0.02396	-0.982000	0.02568	AAG		TCGA-HZ-A4BH-01A-11D-A26I-08	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1	1	0	0	45	627	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1.000000	45	622	0	52	2								-9.421888	1	1	0	0		1	0	0	0	2.035354	0	0.310000	1.820000	0.301337	0.420000	0.310000	0.550000	0.430000	0.433359	0.420000	0	3.600000e-01	4.900000e-01
PCDH18	54510	broad.mit.edu	37	4	138451227	138451227	+	Silent	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:138451227C>T	ENST00000344876.4	-	1	2402	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	PCDH18_ENST00000507846.1_Silent_p.L452L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.L672L|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18			86	all_hematologic(180;0.24)				TCATGCACTTCAGAAGGACTT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000344876.4	1	1	hg19	CCDS34064.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	0	81	881	0	139	0	2.072071e-01	0	10	0	139	2		0	0	0	0	0	2	1	1.000000	81	877	0	139	2								-18.466390	1	1	0	0		1	0	1	1	1.789989	1	0.310000	1.820000	0.184927	0.450000	0.360000	0.550000	0.460000	0.462449	0.450000	0	4.000000e-01	5.100000e-01
SEPSECS	51091	broad.mit.edu	37	4	25158572	25158572	+	Silent	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:25158572G>A	ENST00000382103.2	-	3	366	c.294C>T	c.(292-294)tcC>tcT	p.S98S	SEPSECS_ENST00000302922.3_Silent_p.S19S	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase			8		Breast(46;0.173)			AAATATCACCGGATCGTCCAA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000382103.2	1	1	hg19	CCDS3432.2																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	1	0	1	77	383	0	54	0	2.688507e-01	1	5	0	54	2		0	0	0	0	0	2	1	1.000000	77	378	0	54	2								-2.825206	1	1	121412	6	40	1	1	2	3	2.082443	0	0.310000	1.820000	0.315306	0.990000	0.870000	1.000000	1.000000	0.988114	0.990000	1	9.700000e-01	1
PCDHA3	56145	broad.mit.edu	37	5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:140180975C>T	ENST00000522353.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3			95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCGCCTGTTCCGGGTGGCGTC	0.617000																								0							SO:0001583	missense			ENST00000522353.2	1	1	hg19	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.980912	0.74474	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.38887	1.11;1.11	4.48	3.58	0.41010	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.37955	U	0.001876	T	0.78130	0.4235	H	0.99117	4.435	0.40488	D	0.980514	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.87025	0.2131	10	0.87932	D	0	.	13.635	0.62217	0.1614:0.8386:0.0:0.0	.	65;65	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	W	65	ENSP00000429808:R65W;ENSP00000434086:R65W	ENSP00000429808:R65W	R	+	1	2	PCDHA3	140161159	0.994000	0.37717	1.000000	0.80357	0.978000	0.69477	3.208000	0.51114	0.963000	0.38082	0.586000	0.80456	CGG		TCGA-HZ-A4BH-01A-11D-A26I-08	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	1	0	0	61	935	1	152	0	0	0	1	1	152	2		0	0	0	0	0	2	1	0.999998	56	877	1	162	20								-2.559126	1	1	0	0		1	0	0	0	1.973607	0	0.310000	1.820000	0.278695	0.370000	0.280000	0.470000	0.380000	0.382412	0.370000	0	3.200000e-01	4.300000e-01
PCDH12	51294	broad.mit.edu	37	5	141335640	141335640	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:141335640C>T	ENST00000231484.3	-	1	2987	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12			38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TTGGGAGTCTCGATGGGCACC	0.597000																								0							SO:0001583	missense			ENST00000231484.3	1	1	hg19	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681193	0.29872	.	.	ENSG00000113555	ENST00000231484	T	0.53423	0.62	5.38	5.38	0.77491	.	0.194702	0.44285	D	0.000471	T	0.37019	0.0988	L	0.54323	1.7	0.43430	D	0.995596	P	0.41710	0.76	B	0.22152	0.038	T	0.39292	-0.9621	10	0.44086	T	0.13	.	14.5119	0.67794	0.0:1.0:0.0:0.0	.	593	Q9NPG4	PCD12_HUMAN	K	593	ENSP00000231484:E593K	ENSP00000231484:E593K	E	-	1	0	PCDH12	141315824	1.000000	0.71417	0.755000	0.31263	0.059000	0.15707	5.396000	0.66297	2.802000	0.96397	0.655000	0.94253	GAG		TCGA-HZ-A4BH-01A-11D-A26I-08	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	1	0	1	51	246	0	66	0	9.615120e-01	0	28	0	66	2		0	0	0	0	0	2	1	1.000000	51	242	0	66	2								-3.021709	1	1	121412	1	28	1	0	0	0	1.973607	0	0.310000	1.820000	0.278695	0.990000	0.800000	1.000000	1.000000	0.973418	0.990000	1	9.200000e-01	1
GABRG2	2566	broad.mit.edu	37	5	161576159	161576159	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:161576159G>A	ENST00000361925.4	+	8	1188	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	GABRG2_ENST00000393933.4_Missense_Mutation_p.R228Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R363Q|GABRG2_ENST00000356592.3_Missense_Mutation_p.R323Q			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2			62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACCATTGCCCGGAAATCGCTC	0.473000																								0							SO:0001583	missense			ENST00000361925.4	1	1	hg19	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	36	5.909224	0.97093	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.88	5.88	0.94601	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92789	0.7707	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.954;0.969	D	0.92716	0.6187	10	0.87932	D	0	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	363;323;323	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	Q	323;363;323;228	ENSP00000349000:R323Q;ENSP00000410732:R363Q;ENSP00000354651:R323Q;ENSP00000377510:R228Q	ENSP00000349000:R323Q	R	+	2	0	GABRG2	161508737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.751000	0.98889	2.779000	0.95612	0.650000	0.86243	CGG		TCGA-HZ-A4BH-01A-11D-A26I-08	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1	1	0	0	40	418	0	65	0	9.464194e-02	0	6	0	65	2		0	0	0	0	0	2	1	1.000000	40	416	0	65	2								-2.522913	1	1	0	0		1	0	0	0	1.973607	0	0.310000	1.820000	0.278695	0.530000	0.390000	0.700000	0.540000	0.546976	0.530000	0	4.600000e-01	6.300000e-01
SKP2	6502	broad.mit.edu	37	5	36170522	36170522	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:36170522A>G	ENST00000274255.6	+	6	944	c.748A>G	c.(748-750)Act>Gct	p.T250A	SKP2_ENST00000274254.5_Missense_Mutation_p.T250A|SKP2_ENST00000546211.1_Missense_Mutation_p.T36A|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase			4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		TGCCCTGCAGACTTTGCTAAG	0.383000																								0							SO:0001583	missense			ENST00000274255.6	1	1	hg19	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	A	8.341	0.828751	0.16749	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151;ENST00000546211	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.53	3.19	0.36642	.	0.419284	0.28365	N	0.015605	T	0.31199	0.0789	L	0.37507	1.11	0.24045	N	0.996061	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.24083	-1.0170	10	0.07644	T	0.81	-7.1949	8.9256	0.35639	0.8857:0.0:0.1143:0.0	.	36;250;250	B4DJT4;Q13309-2;Q13309	.;.;SKP2_HUMAN	A	250;250;216;205;36	ENSP00000274254:T250A;ENSP00000274255:T250A;ENSP00000423188:T205A;ENSP00000443492:T36A	ENSP00000274254:T250A	T	+	1	0	SKP2	36206279	0.702000	0.27816	0.988000	0.46212	0.883000	0.51084	1.206000	0.32321	0.546000	0.28920	0.533000	0.62120	ACT		TCGA-HZ-A4BH-01A-11D-A26I-08	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	1	0	0	25	418	0	48	0	1.968732e-01	1	13	0	48	2		0	0	0	0	0	2	1	1.000000	25	415	0	48	2								-20.000000	1	1	0	0		1	0	0	0	2.035507	0	0.310000	1.820000	0.301337	0.360000	0.230000	0.510000	0.360000	0.370330	0.360000	0	2.900000e-01	4.400000e-01
ADAMTS16	170690	broad.mit.edu	37	5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:5239938G>A	ENST00000274181.7	+	16	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16			107					TGGCCCGGCCGGTACAAATTT	0.512000																								0							SO:0001583	missense			ENST00000274181.7	1	1	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660533	0.47572	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.50277	0.75	5.56	4.69	0.59074	ADAM-TS Spacer 1 (1);	0.275899	0.31020	N	0.008407	T	0.32041	0.0816	L	0.35542	1.07	0.09310	N	0.999998	B;B	0.26081	0.141;0.085	B;B	0.18561	0.02;0.022	T	0.14868	-1.0457	10	0.26408	T	0.33	.	7.7049	0.28644	0.246:0.0:0.754:0.0	.	808;808	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	808	ENSP00000274181:R808Q	ENSP00000274181:R808Q	R	+	2	0	ADAMTS16	5292938	0.005000	0.15991	0.498000	0.27564	0.973000	0.67179	1.239000	0.32719	1.355000	0.45865	0.655000	0.94253	CGG		TCGA-HZ-A4BH-01A-11D-A26I-08	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	1	0	0	50	672	0	75	0	2.857254e-01	0	15	0	75	2		0	0	0	0	0	2	1	1.000000	50	662	0	73	2								-2.774725	1	1	120814	9	41	1	0	0	0	2.035507	0	0.310000	1.820000	0.301337	0.430000	0.330000	0.560000	0.440000	0.447389	0.430000	0	3.800000e-01	5.100000e-01
CKMT2	1160	broad.mit.edu	37	5	80550266	80550266	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:80550266G>A	ENST00000424301.2	+	5	641	c.403G>A	c.(403-405)Gac>Aac	p.D135N	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D135N|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D135N	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)			17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		Creatine(DB00148)	CAACGGCTATGACCCCAGGGT	0.532000																								0							SO:0001583	missense			ENST00000424301.2	1	1	hg19	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760757	0.69763	.	.	ENSG00000131730	ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301;ENST00000505060	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.61	5.61	0.85477	ATP:guanido phosphotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.69185	2.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.61267	-0.7097	10	0.54805	T	0.06	-10.8422	19.6449	0.95773	0.0:0.0:1.0:0.0	.	135	P17540	KCRS_HUMAN	N	135	ENSP00000254035:D135N;ENSP00000423264:D135N;ENSP00000410289:D135N;ENSP00000404203:D135N;ENSP00000427635:D135N	ENSP00000254035:D135N	D	+	1	0	CKMT2	80586022	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	7.641000	0.83368	2.627000	0.88993	0.563000	0.77884	GAC		TCGA-HZ-A4BH-01A-11D-A26I-08	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	1	0	0	25	347	0	86	0	1.039398e-01	0	8	0	86	2		0	0	0	0	0	2	1	1.000000	24	344	0	85	2								-7.418816	1	1	0	0		1	0	0	0	1.973607	0	0.310000	1.820000	0.278695	0.410000	0.270000	0.580000	0.410000	0.426065	0.410000	0	3.400000e-01	5.000000e-01
SLC16A10	117247	broad.mit.edu	37	6	111498424	111498424	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:111498424G>C	ENST00000368851.5	+	3	673	c.498G>C	c.(496-498)gaG>gaC	p.E166D	SLC16A10_ENST00000368850.3_5'UTR|SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10			12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GTTCCATCGAGCCTCTGTACC	0.398000																								0							SO:0001583	missense			ENST00000368851.5	1	1	hg19	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.897900|1.897900	0.33535|0.33535	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853|ENST00000419619;ENST00000439288	T|.	0.37058|.	1.22|.	5.22|5.22	2.37|2.37	0.29283|0.29283	Major facilitator superfamily domain, general substrate transporter (1);|.	0.144833|.	0.64402|.	N|.	0.000008|.	T|T	0.43500|0.43500	0.1250|0.1250	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	P;D|.	0.56521|.	0.786;0.976|.	P;P|.	0.62298|.	0.76;0.9|.	T|T	0.42447|0.42447	-0.9451|-0.9451	10|5	0.19147|.	T|.	0.46|.	.|.	4.3484|4.3484	0.11143|0.11143	0.2966:0.0:0.542:0.1614|0.2966:0.0:0.542:0.1614	.|.	166;166|.	Q8TF71;Q05BR4|.	MOT10_HUMAN;.|.	D|T	166;166;57|52	ENSP00000357844:E166D|.	ENSP00000357844:E166D|.	E|S	+|+	3|2	2|0	SLC16A10|SLC16A10	111605117|111605117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.672000|0.672000	0.25187|0.25187	0.653000|0.653000	0.30826|0.30826	0.563000|0.563000	0.77884|0.77884	GAG|AGC		TCGA-HZ-A4BH-01A-11D-A26I-08	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2	1	0	1	45	384	0	56	0	2.482022e-01	0	9	0	56	2		0	0	0	0	0	2	1	1.000000	45	377	0	55	2								-20.000000	1	1	0	0		1	0	1	1	1.912280	0	0.310000	1.820000	0.258264	0.620000	0.460000	0.810000	0.630000	0.636262	0.620000	0	5.400000e-01	7.200000e-01
PRL	5617	broad.mit.edu	37	6	22294688	22294688	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:22294688C>T	ENST00000306482.1	-	2	672	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	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)				TGGGACAGGACGACGGCGCGG	0.582000																								0							SO:0001583	missense			ENST00000306482.1	1	1	hg19	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996710	0.35226	.	.	ENSG00000172179	ENST00000306482	D	0.88741	-2.42	5.85	0.828	0.18841	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.538216	0.21188	N	0.078687	T	0.49795	0.1578	N	0.02854	-0.475	0.19945	N	0.999948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52495	-0.8568	10	0.28530	T	0.3	0.6696	5.8852	0.18878	0.0:0.2086:0.129:0.6624	.	52;53	P01236;Q5I0G2	PRL_HUMAN;.	I	52	ENSP00000302150:V52I	ENSP00000302150:V52I	V	-	1	0	PRL	22402667	0.999000	0.42202	0.922000	0.36590	0.815000	0.46073	0.547000	0.23299	0.122000	0.18314	-0.471000	0.05019	GTC		TCGA-HZ-A4BH-01A-11D-A26I-08	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	1	0	1	44	336	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1.000000	43	334	0	74	2								-17.293210	1	1	121412	2	32	1	1	2	3	2.059508	0	0.310000	1.820000	0.311068	0.740000	0.550000	0.980000	0.740000	0.756057	0.740000	0	6.400000e-01	8.600000e-01
EYS	346007	broad.mit.edu	37	6	66063415	66063415	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:66063415G>C	ENST00000370621.3	-	9	1921	c.1395C>G	c.(1393-1395)ttC>ttG	p.F465L	EYS_ENST00000370618.3_Missense_Mutation_p.F465L|EYS_ENST00000370616.2_Missense_Mutation_p.F465L|EYS_ENST00000393380.2_Missense_Mutation_p.F465L|EYS_ENST00000503581.1_Missense_Mutation_p.F465L|EYS_ENST00000342421.5_Missense_Mutation_p.F465L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)			69					AAATACCATGGAAGGTGACTC	0.373000																								0							SO:0001583	missense			ENST00000370621.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	7.119	0.577517	0.13686	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	4.14	0.278	0.15673	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.004;0.003;0.003	T	0.48875	-0.8996	9	0.11794	T	0.64	.	6.6386	0.22897	0.4292:0.0:0.5708:0.0	.	465;465;465	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	465	ENSP00000424243:F465L;ENSP00000359655:F465L;ENSP00000359650:F465L;ENSP00000377042:F465L;ENSP00000341818:F465L;ENSP00000359652:F465L	ENSP00000341818:F465L	F	-	3	2	EYS	66120136	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.195000	0.09546	-0.034000	0.13713	0.591000	0.81541	TTC		TCGA-HZ-A4BH-01A-11D-A26I-08	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	1	70	448	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	70	448	0	44	2								-20.000000	1	1	0	0		1	1	2	3	2.058211	0	0.310000	1.820000	0.311068	0.870000	0.690000	1.000000	1.000000	0.872952	0.870000	1	7.700000e-01	9.700000e-01
MYO1G	64005	broad.mit.edu	37	7	45003667	45003667	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:45003667C>T	ENST00000258787.7	-	20	2862	c.2726G>A	c.(2725-2727)cGg>cAg	p.R909Q		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG			28					GGGCACGGCCCGCATCACCCG	0.637000																								0							SO:0001583	missense			ENST00000258787.7	0	1	hg19	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962493	0.74016	2.28E-4	0.0	ENSG00000136286	ENST00000258787	T	0.39056	1.1	4.24	4.24	0.50183	Myosin tail 2 (1);	0.000000	0.33792	N	0.004548	T	0.32194	0.0821	M	0.62016	1.91	0.35794	D	0.82262	P	0.38677	0.642	B	0.26416	0.069	T	0.41875	-0.9484	10	0.15952	T	0.53	.	12.0407	0.53452	0.0:0.8248:0.1752:0.0	.	909	B0I1T2	MYO1G_HUMAN	Q	909	ENSP00000258787:R909Q	ENSP00000258787:R909Q	R	-	2	0	MYO1G	44970192	0.998000	0.40836	0.994000	0.49952	0.695000	0.40330	3.509000	0.53386	2.286000	0.76751	0.655000	0.94253	CGG		TCGA-HZ-A4BH-01A-11D-A26I-08	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2	1	0	0	7	40	0	8	0	9.217702e-01	0	29	0	8	2		0	0	0	0	0	2	1	0.983479	7	40	0	8	2								-14.005020	1	1	120834	5	32	1	0	2	2	1.883342	1	0.310000	1.820000	0.310000	0.990000	0.470000	1.000000	1.000000	0.896844	0.990000	1	7.100000e-01	1
DEFB136	613210	broad.mit.edu	37	8	11831528	11831528	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:11831528G>A	ENST00000382209.2	-	2	154	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136			7			STAD - Stomach adenocarcinoma(15;0.033)		GTGGCAGAACGCAATCCACCT	0.458000																								0							SO:0001583	missense			ENST00000382209.2	1	1	hg19	CCDS43709.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122435	0.37436	.	.	ENSG00000205884	ENST00000382209	T	0.17691	2.26	4.06	2.2	0.27929	.	0.810105	0.10785	N	0.634395	T	0.23727	0.0574	.	.	.	0.09310	N	1	D	0.63046	0.992	P	0.52066	0.689	T	0.12016	-1.0564	9	0.66056	D	0.02	0.1607	5.4674	0.16650	0.1106:0.2046:0.6848:0.0	.	52	Q30KP8	DB136_HUMAN	V	52	ENSP00000371644:A52V	ENSP00000371644:A52V	A	-	2	0	DEFB136	11868937	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.184000	0.16939	0.628000	0.30357	0.555000	0.69702	GCG		TCGA-HZ-A4BH-01A-11D-A26I-08	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	1	0	0	85	1083	0	169		0	0	0	0	169	2		0	0	0	0	0	2	1	1.000000	84	1076	0	169	2								-15.381800	1	1	120920	1	37	1	0	1	1	1.961253	0	0.310000	1.820000	0.258264	0.430000	0.340000	0.530000	0.440000	0.440060	0.430000	0	3.800000e-01	4.800000e-01
NTNG2	84628	broad.mit.edu	37	9	135073821	135073821	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:135073821C>T	ENST00000393229.3	+	3	1458	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	NTNG2_ENST00000372179.3_Missense_Mutation_p.R228C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R228C|NTNG2_ENST00000360670.3_Missense_Mutation_p.R228C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2			29					CCCCGACCTGCGCAACATGGA	0.667000																								0							SO:0001583	missense			ENST00000393229.3	0	1	hg19	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113959	0.77210	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.068253	0.64402	D	0.000020	T	0.77054	0.4074	L	0.57536	1.79	0.49915	D	0.999837	D	0.71674	0.998	P	0.52309	0.695	T	0.79227	-0.1890	10	0.62326	D	0.03	.	11.6166	0.51094	0.284:0.716:0.0:0.0	.	228	Q96CW9	NTNG2_HUMAN	C	228	ENSP00000376921:R228C;ENSP00000376920:R228C;ENSP00000353888:R228C;ENSP00000361252:R228C	ENSP00000353888:R228C	R	+	1	0	NTNG2	134063642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.164000	0.50770	2.417000	0.82017	0.561000	0.74099	CGC		TCGA-HZ-A4BH-01A-11D-A26I-08	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	0	0	0	11	413	0	116	0	2.106905e-02	0	8	0	116	2		0	0	0	0	0	2	1	0.998222	11	406	0	115	2								-3.125807	1	1	0	0		1	0	2	2	1.904342	1	0.310000	1.820000	0.310000	0.180000	0.080000	1.000000	0.160000	0.294703	0.180000	0	1.200000e-01	3.000000e-01
FAM154A	158297	broad.mit.edu	37	9	18941744	18941744	+	Silent	SNP	C	C	T	rs112030642		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:18941744C>T	ENST00000380534.4	-	3	591	c.312G>A	c.(310-312)acG>acA	p.T104T	FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A			26					CTTTCTTATACGTCGTGAGCA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000380534.4	1	1	hg19	CCDS6487.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	1	0	1	104	412	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1.000000	101	405	0	76	2								-20.000000	1	1	121412	1	38	1	0	1	1	1.728485	1	0.310000	1.820000	0.183432	0.960000	0.850000	1.000000	0.990000	0.956610	0.960000	1	9.100000e-01	9.900000e-01
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	C	rs121913385		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:21971111G>C	ENST00000304494.5	-	2	517	c.247C>G	c.(247-249)Cac>Gac	p.H83D	CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97G|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97G|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138G|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83D|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32D	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	SO:0001583	missense			ENST00000304494.5	1	1	hg19	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311283|4.311283	0.81358|0.81358	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71341	-1.37;-1.3|-0.56;-0.56	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77370|0.77370	0.4120|0.4120	L|L	0.27053|0.27053	0.805|0.805	0.45962|0.45962	D|D	0.998784|0.998784	P|D	0.36144|0.71674	0.539|0.998	B|D	0.37480|0.79784	0.251|0.993	T|T	0.77773|0.77773	-0.2462|-0.2462	10|9	0.54805|0.52906	T|T	0.06|0.07	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	G|D	138;97|83	ENSP00000355153:A138G;ENSP00000432664:A97G|ENSP00000307101:H83D;ENSP00000394932:H83D	ENSP00000355153:A138G|ENSP00000307101:H83D	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		TCGA-HZ-A4BH-01A-11D-A26I-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	17	113	0	27	1	9.999954e-01	154	1	0	27	2	1	9.875572e-01	9	42	0	139	2	1	0.999904	14	96	0	26	2								-20.000000	1	1	0	0		1	0	1	1	1.728485	1	0.310000	1.820000	0.183432	0.690000	0.430000	0.950000	0.690000	0.702028	0.690000	0	5.500000e-01	8.400000e-01
NUDT2	318	broad.mit.edu	37	9	34343390	34343390	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:34343390G>T	ENST00000379158.2	+	5	754	c.396G>T	c.(394-396)aaG>aaT	p.K132N	NUDT2_ENST00000346365.4_Missense_Mutation_p.K132N|NUDT2_ENST00000379155.5_Missense_Mutation_p.K132N	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2			3			LUSC - Lung squamous cell carcinoma(29;0.0107)		AGGAGATGAAGGCAGCGCTCC	0.567000													Melanoma(95;1683 1957 4276 39813)											0							SO:0001583	missense			ENST00000379158.2	1	1	hg19	CCDS6552.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382081	0.42207	.	.	ENSG00000164978	ENST00000337747;ENST00000379154;ENST00000379155;ENST00000346365;ENST00000379158	T;T;T	0.08458	3.09;3.09;3.09	5.88	4.99	0.66335	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.205060	0.56097	D	0.000038	T	0.11665	0.0284	L	0.55481	1.735	0.51233	D	0.999916	B	0.26483	0.15	B	0.34536	0.185	T	0.03969	-1.0988	10	0.56958	D	0.05	-18.5143	9.5184	0.39120	0.1987:0.0:0.8013:0.0	.	132	P50583	AP4A_HUMAN	N	132	ENSP00000368452:K132N;ENSP00000344187:K132N;ENSP00000368455:K132N	ENSP00000338397:K132N	K	+	3	2	NUDT2	34333390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.713000	0.61895	1.509000	0.48786	0.561000	0.74099	AAG		TCGA-HZ-A4BH-01A-11D-A26I-08	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	0	0	0	11	300	0	52	1	5.962846e-01	3	51	0	52	2		0	0	0	0	0	2	1	0.998323	11	297	0	52	2								-11.967900	1	1	0	0		1	0	1	1	1.728485	1	0.310000	1.820000	0.183432	0.190000	0.100000	0.320000	0.190000	0.206020	0.190000	0	1.400000e-01	2.600000e-01
FAM47A	158724	broad.mit.edu	37	X	34150323	34150323	+	Silent	SNP	G	G	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:34150323G>T	ENST00000346193.3	-	1	124	c.73C>A	c.(73-75)Cgg>Agg	p.R25R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A			97					TTGGAAGGCCGTTTGTTACAG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000346193.3	1	1	hg19	CCDS43926.1																																																																																				TCGA-HZ-A4BH-01A-11D-A26I-08	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	1	0	0	16	247	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.999941	16	247	0	36	2								-5.615640	1	1	0	0		1	0	1	1			0.310000	1.820000	0.310000	0.190000	0.110000	0.300000	0.190000	0.205188	0.190000	0	1.500000e-01	2.500000e-01
