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
TRUB1	142940	broad.mit.edu	37	10	116698211	116698211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:116698211T>C	ENST00000298746.3	+	1	260	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1			12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)			CAAGCTGCTGTCCTTGAGCGG	0.662000																								0							SO:0001583	missense			ENST00000298746.3	0	1	hg19	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	T	19.630000	3.863849	0.719490	.	.	ENSG00000165832	ENST00000298746	T	0.43688	0.94	6.170000	6.170000	0.997090	Pseudouridine synthase, catalytic domain (1);	0.053893	0.85682	D	0.000000	T	0.60843	0.2300	M	0.61703	1.905	0.547530	D	0.999980	D	0.71674	0.998	D	0.78314	0.991	T	0.58165	-0.7684	10	0.35671	T	0.21	-12.9692	14.345500	0.666580	0.0:0.0:0.0:1.0	.	67	Q8WWH5	TRUB1_HUMAN	P	67	ENSP00000298746:S67P	ENSP00000298746:S67P	S	+	1	0	TRUB1	116688201	1.000000	0.71417	1	0.803570	0.881000	0.508990	3.299000	0.51826	2.371000	0.807100	0.533000	0.621200	TCC		TCGA-IB-AAUQ-01A-22D-A40W-08	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	1	0	0	8	28	0	8	1	5.086540e-01	3	4	0	8	2		0	0	0	0	0	2	1	0.991230	8	27	0	8	2								-17.783790	1	1	121066	1	33	1	0	1	1	1.806314	1	0.250000	1.930000	0.142857	0.860000	0.530000	1.000000	0.990000	0.844488	0.860000	1	7.100000e-01	9.700000e-01
EIF3A	8661	broad.mit.edu	37	10	120801997	120801997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:120801997G>A	ENST00000369144.3	-	19	3162	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A			56		Lung NSC(174;0.094)|all_lung(145;0.123)			GTCATCATCCGCATGACGCCA	0.572000																								0							SO:0001583	missense			ENST00000369144.3	0	1	hg19	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	0.916000	-0.717526	0.031820	4.54E-4	0.0	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24151	1.87;1.87	5.910000	0.478000	0.167890	.	1.821580	0.04002	N	0.296629	T	0.23133	0.0559	L	0.48642	1.525	0.093100	N	1.000000	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.0	T	0.21484	-1.0244	10	0.30078	T	0.28	0.1809	5.816800	0.184970	0.2967:0.3625:0.3408:0.0	.	978;1012	F5H335;Q14152	.;EIF3A_HUMAN	V	1012;978	ENSP00000358140:A1012V;ENSP00000438178:A978V	ENSP00000358140:A1012V	A	-	2	0	EIF3A	120791987	0.000000	0.05858	1.000000e-03	0.086480	0.323000	0.283460	0.258000	0.18387	-0.167000	0.108710	-0.137000	0.144490	GCG		TCGA-IB-AAUQ-01A-22D-A40W-08	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	0	0	0	8	735	0	184	0	5.751756e-01	0	168	0	184	2		0	0	0	0	0	2	1	0.988615	8	722	0	182	2								-1.742120	0	1	121412	11	46	1	0	1	1	1.806314	1	0.250000	1.930000	0.142857	0.070000	0.030000	0.140000	0.080000	0.083873	0.070000	0	5.000000e-02	1.100000e-01
ZNF438	220929	broad.mit.edu	37	10	31137813	31137813	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:31137813G>A	ENST00000361310.3	-	6	1850	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	ZNF438_ENST00000538351.2_Silent_p.H458H|ZNF438_ENST00000436087.2_Silent_p.H507H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000331737.6_Silent_p.H497H|ZNF438_ENST00000442986.1_Silent_p.H507H|ZNF438_ENST00000444692.2_Silent_p.H497H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000452305.1_Silent_p.H497H			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438			35		Prostate(175;0.0587)			CGTGACATCTGTGCCAAGGCT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000361310.3	0	1	hg19	CCDS7168.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	0	0	0	9	792	0	228	0	4.373468e-02	1	25	0	228	2		0	0	0	0	0	2	1	0.993612	9	775	0	228	2								-2.841652	1	1	0	0		1	1	2	3	2.046313	0	0.250000	1.930000	0.257426	0.090000	0.040000	1.000000	0.090000	0.158142	0.090000	0	6.000000e-02	1.400000e-01
DRD2	1813	broad.mit.edu	37	11	113295218	113295218	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:113295218G>A	ENST00000362072.3	-	2	500	c.156C>T	c.(154-156)aaC>aaT	p.N52N	DRD2_ENST00000346454.3_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000355319.2_Silent_p.N52N|DRD2_ENST00000542968.1_Silent_p.N52N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	p.N52N(1)		39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACACCAGCACGTTGCCGAAGA	0.627000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000362072.3	1	1	hg19	CCDS8361.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	1	0	1	32	286	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1.000000	31	282	0	86	2								-12.109920	1	1	121412	28	46	1	0	1	1	2.016792	0	0.250000	1.930000	0.249061	0.800000	0.560000	1.000000	1.000000	0.809561	0.800000	0	6.700000e-01	9.400000e-01
FADS3	3995	broad.mit.edu	37	11	61645989	61645989	+	Missense_Mutation	SNP	C	C	T	rs144099007		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:61645989C>T	ENST00000278829.2	-	5	894	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	FADS3_ENST00000525588.1_Missense_Mutation_p.V220I|FADS3_ENST00000540820.1_Missense_Mutation_p.V248I|FADS3_ENST00000527697.1_Missense_Mutation_p.V124I	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3			15					CCCACCTCGACGGATGACTCC	0.647000																								0							SO:0001583	missense			ENST00000278829.2	1	1	hg19	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	.	12.220000	1.872167	0.330690	0.0	1.16E-4	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.510000	0.501000	0.169250	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.52322	0.1727	L	0.47190	1.495	0.215790	N	0.999640	B;B	0.16166	0.004;0.016	B;B	0.23275	0.027;0.045	T	0.42865	-0.9426	9	0.36615	T	0.2	-10.6178	8.926500	0.356430	0.0:0.684:0.0:0.316	.	124;248	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	I	124;248;248;220;124;124	ENSP00000431533:V124I;ENSP00000278829:V248I;ENSP00000439308:V248I;ENSP00000432206:V220I;ENSP00000436890:V124I;ENSP00000434551:V124I	ENSP00000278829:V248I	V	-	1	0	FADS3	61402565	0.001000	0.12720	0	0.037020	0.112000	0.197040	0.149000	0.16243	-0.099000	0.122630	-1.036000	0.023920	GTC		TCGA-IB-AAUQ-01A-22D-A40W-08	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1	1	0	1	62	392	0	101	1	9.885465e-01	18	28	0	101	2		0	0	0	0	0	2	1	1.000000	61	381	0	100	2								-20.000000	1	1	121408	4	40	1	0	0	0	2.000035	0	0.250000	1.930000	0.242424	0.990000	0.840000	1.000000	1.000000	0.982246	0.990000	1	9.500000e-01	1
MEN1	4221	broad.mit.edu	37	11	64572244	64572244	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:64572244G>A	ENST00000337652.1	-	10	1913	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000377326.3_Silent_p.A465A|MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000315422.4_Silent_p.A465A|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Silent_p.A470A|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000312049.6_Silent_p.A465A|MEN1_ENST00000377321.1_Silent_p.A430A|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000394374.2_Silent_p.A470A	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I			337					CCTCGGCCTCGGCCGCCTCGG	0.726000			D, Mis, N, F, S		parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0		GRCh37	CD021425	MEN1	D		SO:0001819	synonymous_variant	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	ENST00000337652.1	1	1	hg19	CCDS8083.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	1	0	0	29	194	0	54	1	8.614351e-01	9	17	0	54	2		0	0	0	0	0	2	1	1.000000	26	168	0	52	2								-3.077415	1	1	116920	1	27	1	0	0	0	2.000035	0	0.250000	1.930000	0.242424	0.990000	0.710000	1.000000	1.000000	0.949249	0.990000	1	8.600000e-01	1
OAS2	4939	broad.mit.edu	37	12	113442853	113442853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:113442853G>A	ENST00000342315.4	+	7	1508	c.1294G>A	c.(1294-1296)Gtc>Atc	p.V432I	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.V432I	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa			28					GCACAAAATCGTCAAGGAAAT	0.507000													Pancreas(199;709 2232 18410 33584 35052)											0							SO:0001583	missense			ENST00000342315.4	1	1	hg19	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	0.660000	-0.806221	0.028190	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.07021	3.23;3.23	4.110000	-6.580000	0.018360	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	1.058010	0.07534	N	0.912661	T	0.01387	0.0045	N	0.00303	-1.675	0.093100	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.41538	-0.9503	10	0.02654	T	1	-21.0848	6.381000	0.215330	0.2512:0.2993:0.4495:0.0	.	432;432	P29728;P29728-2	OAS2_HUMAN;.	I	432	ENSP00000342278:V432I;ENSP00000376362:V432I	ENSP00000342278:V432I	V	+	1	0	OAS2	111927236	0.018000	0.18449	0	0.037020	0.006000	0.054640	0.038000	0.13862	-1.355000	0.021860	-0.312000	0.090120	GTC		TCGA-IB-AAUQ-01A-22D-A40W-08	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1	1	0	1	23	146	0	53	1	9.999452e-01	20	85	0	53	2		0	0	0	0	0	2	1	0.999999	23	139	0	51	2								-20.000000	1	1	0	0		1	0	1	1	2.017306	0	0.250000	1.930000	0.249061	0.990000	0.720000	1.000000	1.000000	0.960363	0.990000	1	8.800000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.400000	4.409094	0.833400	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.807220	D	1.000000	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.371900	0.904090	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1	0.803570	0.998000	0.957120	7.743000	0.85020	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-IB-AAUQ-01A-22D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	23	186	0	84	0	2.283932e-01	1	7	0	84	2	1	1	31	303	0	433	2	1	1.000000	23	185	0	83	2								-10.869180	1	1	121404	2	44	1	0	1	1	2.017306	0	0.250000	1.930000	0.249061	0.870000	0.580000	1.000000	1.000000	0.865459	0.870000	1	7.100000e-01	1
PDZRN4	29951	broad.mit.edu	37	12	41966623	41966623	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:41966623A>C	ENST00000402685.2	+	10	2050	c.2042A>C	c.(2041-2043)cAg>cCg	p.Q681P	PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P|PDZRN4_ENST00000298919.7_Missense_Mutation_p.Q421P	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4			77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)			CTTGAGTGTCAGAATATCATG	0.453000																								0							SO:0001583	missense			ENST00000402685.2	1	1	hg19	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	14.740000	2.625622	0.468400	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72942	-0.7;3.77;3.77	4.490000	4.490000	0.547850	.	0.168540	0.41396	D	0.000898	T	0.80639	0.4661	L	0.56769	1.78	0.807220	D	1.000000	D;D;D	0.76494	0.999;0.993;0.985	D;P;P	0.83275	0.996;0.905;0.905	T	0.80645	-0.1290	10	0.42905	T	0.14	-37.9358	14.499900	0.677140	1.0:0.0:0.0:0.0	.	681;421;423	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	P	681;423;421	ENSP00000384197:Q681P;ENSP00000439990:Q423P;ENSP00000298919:Q421P	ENSP00000298919:Q421P	Q	+	2	0	PDZRN4	40252890	1.000000	0.71417	1	0.803570	0.988000	0.763860	5.146000	0.64845	1.987000	0.579960	0.528000	0.532280	CAG		TCGA-IB-AAUQ-01A-22D-A40W-08	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	1	0	1	32	241	0	70	0	0	0	1	0	70	2		0	0	0	0	0	2	1	1.000000	32	238	0	70	2								-13.923500	1	1	0	0		1	0	1	1	2.017306	0	0.250000	1.930000	0.249061	0.930000	0.660000	1.000000	1.000000	0.908255	0.930000	1	7.800000e-01	1
KRT78	196374	broad.mit.edu	37	12	53242653	53242653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:53242653C>T	ENST00000304620.4	-	1	125	c.62G>A	c.(61-63)cGc>cAc	p.R21H	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78			18					GCCCCTTGAGCGAGCAGAACA	0.647000																								0							SO:0001583	missense			ENST00000304620.4	1	1	hg19	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	11.980000	1.799620	0.318690	.	.	ENSG00000170423	ENST00000304620	T	0.75154	-0.91	5.140000	-1.840000	0.078090	.	.	.	.	.	T	0.64103	0.2568	M	0.69358	2.11	0.093100	N	1.000000	B	0.15719	0.014	B	0.08055	0.003	T	0.53669	-0.8406	9	0.46703	T	0.11	.	1.087100	0.016550	0.1385:0.3492:0.2054:0.3069	.	21	Q8N1N4	K2C78_HUMAN	H	21	ENSP00000306261:R21H	ENSP00000306261:R21H	R	-	2	0	KRT78	51528920	0.000000	0.05858	0	0.037020	0.020000	0.101350	-0.799000	0.04560	-0.602000	0.057750	0.485000	0.478350	CGC		TCGA-IB-AAUQ-01A-22D-A40W-08	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	1	0	1	13	113	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	0.999361	12	104	0	26	2								-19.639160	1	1	121366	1	29	1	0	1	1	2.017306	0	0.250000	1.930000	0.249061	0.830000	0.470000	1.000000	1.000000	0.818965	0.830000	0	6.300000e-01	1
RDH5	5959	broad.mit.edu	37	12	56118220	56118220	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:56118220C>A	ENST00000257895.5	+	5	1000	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	p.Y281fs*>29(1)		12				Vitamin A(DB00162)	CGCTACAGCCCAGGTTGGGAT	0.632000											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												1	Deletion - Frameshift(1)						SO:0001583	missense			ENST00000257895.5	1	1	hg19	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	C	29.800000	5.036463	0.936300	.	.	ENSG00000135437	ENST00000547072;ENST00000257895;ENST00000548082	D;D;D	0.87179	-2.22;-2.22;-2.22	4.920000	4.920000	0.645770	NAD(P)-binding domain (1);	0.121529	0.56097	D	0.000038	D	0.93171	0.7825	M	0.88450	2.955	0.453300	D	0.998329	D	0.58620	0.983	P	0.57960	0.83	D	0.94197	0.7446	10	0.62326	D	0.03	.	15.973000	0.800340	0.0:1.0:0.0:0.0	.	283	Q92781	RDH1_HUMAN	Q	186;283;283	ENSP00000449927:P186Q;ENSP00000257895:P283Q;ENSP00000447128:P283Q	ENSP00000257895:P283Q	P	+	2	0	RDH5	54404487	0.999000	0.42202	1	0.803570	0.997000	0.918780	6.045000	0.71020	2.449000	0.828470	0.561000	0.740990	CCA		TCGA-IB-AAUQ-01A-22D-A40W-08	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	1	0	1	83	703	0	177	1	6.405109e-01	7	13	0	177	2		0	0	0	0	0	2	1	1.000000	83	688	0	175	2								-3.075755	1	1	0	0		1	0	1	1	2.017306	0	0.250000	1.930000	0.249061	0.830000	0.670000	1.000000	1.000000	0.846554	0.830000	0	7.500000e-01	9.300000e-01
C13orf35	0	broad.mit.edu	37	13	113333852	113333852	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:113333852G>A	ENST00000356049.1	+	2	917	c.159G>A	c.(157-159)ccG>ccA	p.P53P		NM_207440.1	NP_997323.1	Q6ZP68	ATPUN_HUMAN				5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)		ATGAGCCGCCGATCCGAGCTC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000356049.1	0	1	hg19	CCDS9526.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000126522.2	0	0	0	6	190	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	0.962815	6	185	0	39	2								-8.065816	1	1	0	0		1	1	2	3	2.019742	0	0.250000	1.930000	0.251870	0.260000	0.100000	0.550000	0.240000	0.286320	0.260000	0	1.700000e-01	3.800000e-01
TUBA3C	7278	broad.mit.edu	37	13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c			72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)			ATCTCAGCCACGGACAGCTGC	0.607000																								0							SO:0001583	missense			ENST00000400113.3	1	1	hg19	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.380000	1.334912	0.242530	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.88046	-2.33	1.190000	1.190000	0.210070	.	0.000000	0.42294	U	0.000740	D	0.88662	0.6497	.	.	.	0.411880	D	0.986281	.	.	.	.	.	.	D	0.87966	0.2733	7	0.87932	D	0	.	8.329700	0.321780	0.0:1.0:0.0:0.0	.	.	.	.	M	288	ENSP00000382982:V288M	ENSP00000354037:V288M	V	-	1	0	TUBA3C	18649261	1.000000	0.71417	9.850000e-01	0.450670	0.516000	0.342560	6.295000	0.72744	0.972000	0.383140	0.175000	0.170210	GTG		TCGA-IB-AAUQ-01A-22D-A40W-08	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	1	0	1	78	635	0	188		0	0	0	0	188	2		0	0	0	0	0	2	1	1.000000	75	620	0	195	2								-19.999990	1	0	121412	3	40	1						0.250000	1.930000									0	0
FRY	10129	broad.mit.edu	37	13	32850630	32850630	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:32850630C>T	ENST00000380250.3	+	57	8812	c.8316C>T	c.(8314-8316)ctC>ctT	p.L2772L	FRY_ENST00000542859.1_Silent_p.L142L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)			132		Lung SC(185;0.0271)			TGGACAAGCTCAAGTTCAGTG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000380250.3	1	1	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	9.396000	1.076814	0.202270	.	.	ENSG00000073910	ENST00000380235	.	.	.	5.600000	3.790000	0.435880	.	.	.	.	.	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	10.135000	0.427010	0.2105:0.4488:0.3407:0.0	.	.	.	.	X	400	.	ENSP00000369567:Q400X	Q	+	1	0	FRY	31748630	1.000000	0.71417	1	0.803570	0.976000	0.684990	1.111000	0.31159	1.343000	0.456380	0.555000	0.697020	CAA		TCGA-IB-AAUQ-01A-22D-A40W-08	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	1	0	1	39	306	0	110	1	9.967684e-01	9	62	0	110	2		0	0	0	0	0	2	1	1.000000	39	301	0	110	2								-15.096690	1	1	0	0		1	1	2	3	2.019742	0	0.250000	1.930000	0.251870	0.900000	0.660000	1.000000	1.000000	0.894018	0.900000	1	7.700000e-01	1
VPS36	51028	broad.mit.edu	37	13	53013235	53013235	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:53013235C>G	ENST00000378060.4	-	3	261	c.234G>C	c.(232-234)aaG>aaC	p.K78N	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)			17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			AGACTTACCTCTTCCCAATTC	0.408000																								0							SO:0001583	missense			ENST00000378060.4	1	1	hg19	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	15.650000	2.895224	0.521210	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.140000	3.100000	0.357090	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.69823	2.125	0.807220	D	1.000000	P	0.36392	0.551	B	0.42462	0.388	T	0.57590	-0.7785	9	0.49607	T	0.09	-0.4756	6.506200	0.221960	0.0:0.5215:0.0:0.4784	.	78	Q86VN1	VPS36_HUMAN	N	78	.	ENSP00000367299:K78N	K	-	3	2	VPS36	51911236	1.000000	0.71417	1	0.803570	0.942000	0.587020	0.937000	0.28951	1.124000	0.419800	0.655000	0.942530	AAG		TCGA-IB-AAUQ-01A-22D-A40W-08	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3	1	0	1	33	214	0	73	0	6.196373e-01	0	15	0	73	2		0	0	0	0	0	2	1	1.000000	33	214	0	72	2								-20.000000	1	1	0	0		1	1	2	3	2.019742	0	0.250000	1.930000	0.251870	0.990000	0.760000	1.000000	1.000000	0.966485	0.990000	1	9.000000e-01	1
DLGAP5	9787	broad.mit.edu	37	14	55618581	55618581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:55618581C>T	ENST00000247191.2	-	17	2416	c.2200G>A	c.(2200-2202)Gca>Aca	p.A734T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5			44					ATATCATCTGCTACTCCACCA	0.358000																								0							SO:0001583	missense			ENST00000247191.2	1	1	hg19	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	10.380000	1.335122	0.242530	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.31510	1.49;1.49	4.080000	0.032100	0.141740	.	1.039760	0.07679	N	0.936753	T	0.18215	0.0437	L	0.32530	0.975	0.093100	N	1.000000	P;P	0.45126	0.851;0.851	B;B	0.37550	0.253;0.253	T	0.17930	-1.0353	10	0.66056	D	0.02	.	1.151400	0.017860	0.1548:0.4127:0.1513:0.2812	.	734;734	A8MTM6;Q15398	.;DLGP5_HUMAN	T	734	ENSP00000378815:A734T;ENSP00000247191:A734T	ENSP00000247191:A734T	A	-	1	0	DLGAP5	54688334	0.000000	0.05858	0	0.037020	0.759000	0.430910	-1.321000	0.02697	-0.111000	0.120010	-0.857000	0.030180	GCA		TCGA-IB-AAUQ-01A-22D-A40W-08	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	1	0	1	24	222	0	59	1	5.753684e-01	9	10	0	59	2		0	0	0	0	0	2	1	1.000000	24	220	0	56	2								-20.000000	1	1	121404	1	31	1	0	0	0	1.991053	0	0.250000	1.930000	0.238579	0.760000	0.510000	1.000000	1.000000	0.777692	0.760000	0	6.300000e-01	9.300000e-01
PCNX	22990	broad.mit.edu	37	14	71455320	71455320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:71455320G>A	ENST00000304743.2	+	7	2794	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.R783H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)			87			KIRC - Kidney renal clear cell carcinoma(12;0.206)		TCATTTCGCCGTGAACGCAGC	0.547000																								0							SO:0001583	missense			ENST00000304743.2	0	1	hg19	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	25.000000	4.596374	0.869530	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.01059	5.39;5.39	5.010000	5.010000	0.668630	.	0.110787	0.64402	D	0.000008	T	0.05640	0.0148	L	0.55481	1.735	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.47911	-0.9080	10	0.42905	T	0.14	.	18.868400	0.923030	0.0:0.0:1.0:0.0	.	783;783	Q96RV3;Q96RV3-2	PCX1_HUMAN;.	H	783	ENSP00000304192:R783H;ENSP00000238570:R783H	ENSP00000238570:R783H	R	+	2	0	PCNX	70525073	1.000000	0.71417	1	0.803570	0.967000	0.649340	9.203000	0.95033	2.767000	0.950980	0.591000	0.815410	CGT		TCGA-IB-AAUQ-01A-22D-A40W-08	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	0	0	0	5	534	0	189	0	4.254880e-04	0	3	0	189	2		0	0	0	0	0	2	1	0.934362	5	523	0	186	2								-2.585469	1	1	121412	3	39	1	0	0	0	1.991053	0	0.250000	1.930000	0.238579	0.070000	0.020000	0.160000	0.070000	0.086886	0.070000	0	4.000000e-02	1.200000e-01
SPG11	80208	broad.mit.edu	37	15	44888457	44888457	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:44888457T>A	ENST00000261866.7	-	25	4274	c.4258A>T	c.(4258-4260)Agc>Tgc	p.S1420C	SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C|SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C|SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)			72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)			ACTTGATCGCTGTCCATTTTG	0.473000																								0							SO:0001583	missense			ENST00000261866.7	1	1	hg19	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	10.150000	1.270572	0.232210	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79033	-1.23;-1.23;-1.23	4.930000	-0.240000	0.130470	.	0.760869	0.12223	N	0.488178	T	0.74129	0.3676	L	0.47716	1.5	0.093100	N	1.000000	B;D;D	0.55800	0.001;0.959;0.973	B;P;P	0.51999	0.001;0.687;0.513	T	0.63453	-0.6634	10	0.62326	D	0.03	.	4.787900	0.132340	0.1363:0.2567:0.0:0.607	.	1420;1420;1420	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	C	1420	ENSP00000261866:S1420C;ENSP00000445278:S1420C;ENSP00000396110:S1420C	ENSP00000261866:S1420C	S	-	1	0	SPG11	42675749	0.001000	0.12720	0	0.037020	0.012000	0.079550	0.796000	0.26986	0.033000	0.154630	-0.333000	0.083040	AGC		TCGA-IB-AAUQ-01A-22D-A40W-08	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1	1	0	1	46	493	0	182	1	7.396060e-01	4	26	0	182	2		0	0	0	0	0	2	1	1.000000	45	488	0	181	2								-12.894250	1	1	0	0		1	0	0	0	2.009260	0	0.250000	1.930000	0.246231	0.670000	0.500000	0.870000	0.670000	0.687558	0.670000	0	5.800000e-01	7.800000e-01
CYP1A2	1544	broad.mit.edu	37	15	75042757	75042757	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:75042757C>T	ENST00000343932.4	+	2	741	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	p.F226F(2)		33				"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CTCATGAGTTCGTGGAGACTG	0.572000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000343932.4	1	1	hg19	CCDS32293.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	1	0	0	102	639	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1.000000	101	634	0	176	2								-20.000000	1	1	0	0		1	0	0	0	2.009260	0	0.250000	1.930000	0.246231	0.990000	0.900000	1.000000	1.000000	0.991978	0.990000	1	9.900000e-01	1
TMC5	79838	broad.mit.edu	37	16	19498557	19498557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:19498557C>T	ENST00000396229.2	+	17	3231	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W|TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000541464.1_Missense_Mutation_p.R776W|TMC5_ENST00000564959.1_Missense_Mutation_p.R511W	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	p.R828W(1)|p.R582W(1)		31					CAAAGCCTGGCGGGCCTCACA	0.567000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000396229.2	1	1	hg19	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	21.700000	4.187204	0.787890	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.720000	3.680000	0.422160	.	0.284410	0.37304	N	0.002141	D	0.85643	0.5744	M	0.92555	3.32	0.530050	D	0.999960	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.999;0.999	D	0.85936	0.1455	10	0.87932	D	0	-21.0866	9.062400	0.364420	0.4067:0.4586:0.1346:0.0	.	776;511;582;582;828;828	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	W	776;828;828;828;582;511	ENSP00000441227:R776W;ENSP00000370822:R828W;ENSP00000379531:R828W;ENSP00000446274:R828W;ENSP00000219821:R582W	ENSP00000219821:R582W	R	+	1	2	TMC5	19406058	1.000000	0.71417	1	0.803570	0.997000	0.918780	2.706000	0.47135	0.699000	0.317610	0.655000	0.942530	CGG		TCGA-IB-AAUQ-01A-22D-A40W-08	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	1	0	0	37	226	0	59	1	9.999988e-01	25	106	0	59	2		0	0	0	0	0	2	1	1.000000	37	224	0	55	2								-3.145934	1	1	0	0		1	1	2	3	2.082700	0	0.250000	1.930000	0.263804	0.990000	0.840000	1.000000	1.000000	0.986345	0.990000	1	9.900000e-01	1
CACNG3	10368	broad.mit.edu	37	16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:24366270G>A	ENST00000005284.3	+	3	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	p.A138T(1)		40					CATTCTCAGCGCGGGCATCTT	0.572000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000005284.3	1	1	hg19	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	36.000000	5.763234	0.969060	.	.	ENSG00000006116	ENST00000005284	D	0.89617	-2.54	5.410000	5.410000	0.785170	.	0.112679	0.64402	D	0.000015	D	0.91633	0.7356	M	0.82132	2.575	0.807220	D	1.000000	P	0.51653	0.947	P	0.47827	0.558	D	0.91099	0.4913	10	0.39692	T	0.17	-12.7101	18.986400	0.927710	0.0:0.0:1.0:0.0	.	138	O60359	CCG3_HUMAN	T	138	ENSP00000005284:A138T	ENSP00000005284:A138T	A	+	1	0	CACNG3	24273771	1.000000	0.71417	9.960000e-01	0.522420	0.998000	0.957120	8.961000	0.93122	2.815000	0.969180	0.561000	0.740990	GCG		TCGA-IB-AAUQ-01A-22D-A40W-08	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	1	0	1	38	205	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1.000000	38	201	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.082700	0	0.250000	1.930000	0.263804	0.990000	0.940000	1.000000	1.000000	0.996491	0.990000	1	9.900000e-01	1
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein			43		Ovarian(137;0.0654)			TTCTTGGGCCGCACAGACTCT	0.517000																								0							SO:0001583	missense			ENST00000393567.2	0	1	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	16.370000	3.104288	0.562910	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	6.160000	4.180000	0.491900	.	0.373546	0.14700	U	0.303581	T	0.05640	0.0148	M	0.78223	2.4	0.807220	D	1.000000	D	0.89917	1.0	D	0.69307	0.963	T	0.10337	-1.0634	10	0.72032	D	0.01	.	15.109000	0.723400	0.0:0.0:0.7129:0.2871	.	5069	F8WD23	.	W	5070;5069	ENSP00000377197:R5070W	ENSP00000313052:R5069W	R	-	1	2	HYDIN	69399142	0.632000	0.27172	9.230000e-01	0.366550	0.267000	0.264760	2.233000	0.43027	0.879000	0.359440	0.650000	0.862430	CGG		TCGA-IB-AAUQ-01A-22D-A40W-08	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0	0	0	5	406	1	102	0	1.436265e-03	0	4	1	102	2		0	0	0	0	0	2	0	0.017001	5	397	1	101	15								-1.811121	0	1	121008	20	45	1	0	1	1	1.836021	1	0.250000	1.930000	0.142857	0.080000	0.030000	0.190000	0.080000	0.100206	0.080000	0	5.000000e-02	1.400000e-01
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y	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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642000		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	197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	GRCh37	CM067054	TP53	M		SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32.000000	5.137178	0.945170	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.590000	5.590000	0.848120	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.807220	D	1.000000	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.478400	0.876670	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	9.900000e-01	0.471750	0.864000	0.494480	9.813000	0.99286	2.804000	0.964690	0.655000	0.942530	CAT		TCGA-IB-AAUQ-01A-22D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	20	214	0	76	1	6.070414e-01	6	17	0	76	2	1	1	136	716	0	991	2	1	0.999995	20	206	0	75	2								-3.221889	1	1	0	0		1	0	1	1	1.771623	1	0.250000	1.930000	0.142857	0.590000	0.370000	0.850000	0.580000	0.605711	0.590000	0	4.700000e-01	7.300000e-01
CCDC105	126402	broad.mit.edu	37	19	15121740	15121740	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:15121740C>T	ENST00000292574.3	+	1	185	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105			23					CGCGCACATTCTGACCGATCG	0.706000																								0							SO:0001819	synonymous_variant			ENST00000292574.3	0	1	hg19	CCDS12322.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	0	0	0	3	38	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	0.812643	3	38	0	9	2								-7.782119	1	1	0	0		1	1	2	3	2.141288	1	0.250000	1.930000	0.294118	0.840000	0.220000	1.000000	1.000000	0.764654	0.840000	0	4.400000e-01	1
UBA2	10054	broad.mit.edu	37	19	34922781	34922781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:34922781G>A	ENST00000246548.4	+	3	308	c.238G>A	c.(238-240)Gta>Ata	p.V80I	UBA2_ENST00000439527.2_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2			20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)		CAAGGAAAGTGTACTGCAGTT	0.368000																								0							SO:0001583	missense			ENST00000246548.4	1	1	hg19	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	16.740000	3.205694	0.582340	.	.	ENSG00000126261	ENST00000246548	T	0.26957	1.7	5.370000	5.370000	0.771650	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.115591	0.64402	D	0.000017	T	0.26629	0.0651	L	0.39566	1.225	0.807220	D	1.000000	B	0.28128	0.201	B	0.31390	0.129	T	0.02909	-1.1095	10	0.38643	T	0.18	-18.4752	17.879400	0.888350	0.0:0.0:1.0:0.0	.	80	Q9UBT2	SAE2_HUMAN	I	80	ENSP00000246548:V80I	ENSP00000246548:V80I	V	+	1	0	UBA2	39614621	1.000000	0.71417	9.990000e-01	0.593770	0.865000	0.495280	9.154000	0.94694	2.497000	0.842410	0.563000	0.778840	GTA		TCGA-IB-AAUQ-01A-22D-A40W-08	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	0	0	1	77	453	1	161	1	9.491894e-01	8	23	1	161	2		0	0	0	0	0	2	1	1.000000	76	449	1	161	13								-20.000000	1	1	0	0		1	0	1	1	1.750996	1	0.250000	1.930000	0.148936	0.960000	0.790000	1.000000	1.000000	0.948961	0.960000	1	8.800000e-01	1
EID2B	126272	broad.mit.edu	37	19	40023035	40023035	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40023035G>A	ENST00000326282.4	-	1	459	c.408C>T	c.(406-408)ccC>ccT	p.P136P	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B			3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		CCATCTGCGGGGGATCCGCGT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000326282.4	1	1	hg19	CCDS12539.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	1	0	0	67	630	0	43	0	3.647213e-01	0	13	0	43	2		0	0	0	0	0	2	1	1.000000	64	619	0	43	2								-19.412920	1	1	0	0		1	1	15	16	5.629819	1	0.250000	1.930000	0.725526	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CYP2A6	1548	broad.mit.edu	37	19	41351999	41351999	+	Missense_Mutation	SNP	C	C	G	rs58261757		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:41351999C>G	ENST00000301141.5	-	6	855	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6			37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGGTTCTTCTCCTCCTGCAGG	0.557000																								0							SO:0001583	missense			ENST00000301141.5	1	1	hg19	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	8.649000	0.897840	0.176860	.	.	ENSG00000255974	ENST00000301141	T	0.01359	4.98	1.990000	-2.410000	0.065620	.	0.182114	0.45867	N	0.000324	T	0.00906	0.0030	N	0.17278	0.47	0.250780	N	0.990946	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.44267	-0.9339	10	0.66056	D	0.02	.	4.818800	0.133790	0.0:0.1219:0.3378:0.5403	rs58261757	279;279	Q13120;P11509	.;CP2A6_HUMAN	Q	279	ENSP00000301141:E279Q	ENSP00000301141:E279Q	E	-	1	0	CYP2A6	46043839	0.065000	0.20965	7.300000e-01	0.308090	0.726000	0.416060	0.137000	0.15995	-0.649000	0.054300	-0.552000	0.042080	GAG		TCGA-IB-AAUQ-01A-22D-A40W-08	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	1	0	1	42	145	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1.000000	41	137	0	50	2								-4.052170	1	1	0	0		1	0	2	2	1.963759	1	0.250000	1.930000	0.250000	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
TEX101	83639	broad.mit.edu	37	19	43922079	43922079	+	Silent	SNP	G	G	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:43922079G>T	ENST00000598265.1	+	5	607	c.441G>T	c.(439-441)ggG>ggT	p.G147G	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000602198.1_Silent_p.G165G|TEX101_ENST00000253435.7_Silent_p.G165G	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	p.G165G(1)		15		Prostate(69;0.0199)			TGGCTTTGGGGACCTGTTTCA	0.493000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000598265.1	0	1	hg19	CCDS59393.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	0	0	0	7	728	1	174		0	0	0	1	174	2		0	0	0	0	0	2	0	0.060630	7	718	1	173	15								-2.318518	0	1	0	0		1	0	1	1	1.996078	1	0.250000	1.930000	0.142857	0.060000	0.020000	0.130000	0.070000	0.075356	0.060000	0	4.000000e-02	1.000000e-01
DUS3L	56931	broad.mit.edu	37	19	5789413	5789413	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:5789413G>C	ENST00000309061.7	-	3	801	c.705C>G	c.(703-705)ttC>ttG	p.F235L	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	p.F235F(1)		14					GGCCCTGGCTGAACCGGCGCA	0.726000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000309061.7	0	1	hg19	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	1.085000	-0.665736	0.034280	.	.	ENSG00000141994	ENST00000309061	T	0.14266	2.52	4.530000	-9.070000	0.007240	.	0.376802	0.24143	N	0.041152	T	0.01387	0.0045	N	0.00382	-1.575	0.093100	N	1.000000	B	0.02656	0.0	B	0.01281	0.0	T	0.35773	-0.9775	10	0.02654	T	1	-9.2867	0.113000	0.000580	0.2789:0.1848:0.2504:0.2858	.	235	Q96G46	DUS3L_HUMAN	L	235	ENSP00000311977:F235L	ENSP00000311977:F235L	F	-	3	2	DUS3L	5740413	0.000000	0.05858	0	0.037020	0.006000	0.054640	-3.253000	0.00539	-2.940000	0.002970	-1.330000	0.012730	TTC		TCGA-IB-AAUQ-01A-22D-A40W-08	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	1	0	0	6	30	0	12	1	6.787930e-01	8	5	0	12	2		0	0	0	0	0	2	1	0.969555	6	30	0	11	2								-13.754680	1	1	0	0		1	0	1	1	1.746801	1	0.250000	1.930000	0.142857	0.800000	0.410000	0.990000	0.990000	0.777538	0.800000	0	6.000000e-01	9.400000e-01
ZNF606	80095	broad.mit.edu	37	19	58491598	58491598	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:58491598A>C	ENST00000341164.4	-	7	1070	c.450T>G	c.(448-450)atT>atG	p.I150M	ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606			26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			CTTCCTCAAAAATGCTCTGTG	0.383000																								0							SO:0001583	missense			ENST00000341164.4	1	1	hg19	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	A	10.460000	1.357244	0.245980	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.32023	1.47;2.78;1.47	4.880000	2.730000	0.322060	.	0.165679	0.28577	N	0.014847	T	0.19886	0.0478	L	0.38175	1.15	0.197750	N	0.999955	P	0.36438	0.553	B	0.30029	0.11	T	0.09707	-1.0662	10	0.52906	T	0.07	.	8.191400	0.313700	0.4706:0.0:0.0:0.5294	.	150	Q8WXB4	ZN606_HUMAN	M	150;60;150	ENSP00000343617:I150M;ENSP00000445624:I60M;ENSP00000446972:I150M	ENSP00000343617:I150M	I	-	3	3	ZNF606	63183410	.	.	9.910000e-01	0.477400	0.994000	0.842990	.	.	0.301000	0.227380	0.533000	0.621200	ATT		TCGA-IB-AAUQ-01A-22D-A40W-08	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	1	0	0	48	453	0	134	1	5.047838e-02	2	2	0	134	2		0	0	0	0	0	2	1	1.000000	48	445	0	134	2								-15.292290	1	1	0	0		1	0	2	2	2.010156	1	0.250000	1.930000	0.250000	0.760000	0.570000	0.980000	0.760000	0.773665	0.760000	0	6.600000e-01	8.800000e-01
ARHGEF11	9826	broad.mit.edu	37	1	156939813	156939813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:156939813T>C	ENST00000361409.2	-	8	1347	c.605A>G	c.(604-606)gAc>gGc	p.D202G	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D242G	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11			81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				CTGGCTGGTGTCACCATATAG	0.507000																								0							SO:0001583	missense			ENST00000361409.2	1	1	hg19	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	T	9.766000	1.171349	0.216210	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.67698	-0.28;-0.25	5.400000	4.220000	0.498570	.	0.094778	0.45867	D	0.000338	T	0.33702	0.0872	N	0.24115	0.695	0.291010	N	0.881483	B;B	0.28055	0.062;0.199	B;B	0.30572	0.039;0.117	T	0.13150	-1.0520	10	0.38643	T	0.18	-18.8939	9.416800	0.385250	0.0:0.0:0.1782:0.8218	.	202;242	O15085;O15085-2	ARHGB_HUMAN;.	G	242;202	ENSP00000357177:D242G;ENSP00000354644:D202G	ENSP00000354644:D202G	D	-	2	0	ARHGEF11	155206437	0.077000	0.21312	7.320000e-01	0.308440	0.156000	0.220390	1.293000	0.33353	2.277000	0.760200	0.528000	0.532280	GAC		TCGA-IB-AAUQ-01A-22D-A40W-08	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	1	0	0	35	351	0	75	1	2.368637e-01	2	8	0	75	2		0	0	0	0	0	2	1	1.000000	35	346	0	75	2								-11.682480	1	1	0	0		1	0	0	0	1.992854	0	0.250000	1.930000	0.238579	0.710000	0.510000	0.950000	0.710000	0.724436	0.710000	0	6.000000e-01	8.400000e-01
NFASC	23114	broad.mit.edu	37	1	204970416	204970416	+	Splice_Site	SNP	T	T	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:204970416T>A	ENST00000401399.1	+	25	3335		c.e25+2		NFASC_ENST00000338586.6_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000339876.6_Splice_Site			O94856	NFASC_HUMAN	neurofascin			81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		ACATCGACAGTAAGCATTGCT	0.577000																								0							SO:0001630	splice_region_variant			ENST00000401399.1	0	1	hg19	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	24.500000	4.541581	0.859170	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000401399;ENST00000413225	.	.	.	5.390000	5.390000	0.778230	.	.	.	.	.	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.103500	0.723030	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFASC	203237039	1.000000	0.71417	1	0.803570	0.997000	0.918780	6.978000	0.76147	2.054000	0.611380	0.533000	0.621200	.		TCGA-IB-AAUQ-01A-22D-A40W-08	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	1	0	1	9	71	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	0.994507	9	69	0	21	2								-15.813800	1	1	0	0		1	0	0	0	1.992854	0	0.250000	1.930000	0.238579	0.890000	0.450000	1.000000	1.000000	0.847400	0.890000	1	6.400000e-01	1
CR2	1380	broad.mit.edu	37	1	207640107	207640107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:207640107G>A	ENST00000367058.3	+	2	484	c.295G>A	c.(295-297)Gga>Aga	p.G99R	CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367057.3_Missense_Mutation_p.G99R|CR2_ENST00000367059.3_Missense_Mutation_p.G99R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	p.G99*(1)		69					AGTACCAGGAGGATACAAAAT	0.408000																								1	Substitution - Nonsense(1)						SO:0001583	missense			ENST00000367058.3	1	1	hg19	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	17.720000	3.458973	0.634010	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.000000	4.010000	0.465880	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.82287	0.5004	M	0.91140	3.18	0.305490	N	0.765697	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77864	-0.2429	9	0.37606	T	0.19	.	7.473400	0.273610	0.117:0.0:0.883:0.0	.	99;99;99	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	99	ENSP00000356025:G99R;ENSP00000356024:G99R;ENSP00000356026:G99R;ENSP00000404222:G99R	ENSP00000356024:G99R	G	+	1	0	CR2	205706730	0.570000	0.26651	8.670000e-01	0.340430	0.013000	0.082790	2.467000	0.45093	2.607000	0.881790	0.655000	0.942530	GGA		TCGA-IB-AAUQ-01A-22D-A40W-08	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	1	0	1	47	319	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1.000000	47	314	0	112	2								-2.716819	1	1	0	0		1	0	0	0	1.992854	0	0.250000	1.930000	0.238579	0.990000	0.760000	1.000000	1.000000	0.954635	0.990000	1	8.700000e-01	1
PRSS38	339501	broad.mit.edu	37	1	228004950	228004950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228004950G>A	ENST00000366757.3	+	3	376	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38			23					CGTAGGCCTCGTAAACCTCAG	0.552000																								0							SO:0001583	missense			ENST00000366757.3	1	1	hg19	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	9.126000	1.010207	0.192770	.	.	ENSG00000185888	ENST00000366757	D	0.88509	-2.39	4.230000	-3.160000	0.052170	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.107840	0.07072	N	0.835620	T	0.66197	0.2765	N	0.02181	-0.65	0.093100	N	1.000000	P	0.44627	0.839	B	0.36719	0.231	T	0.62923	-0.6751	10	0.23302	T	0.38	.	5.858800	0.187340	0.5945:0.1533:0.2521:0.0	.	118	A1L453	PRS38_HUMAN	I	118	ENSP00000355719:V118I	ENSP00000355719:V118I	V	+	1	0	PRSS38	226071573	0.000000	0.05858	1.000000e-03	0.086480	0.076000	0.172110	0.169000	0.16641	-0.633000	0.055450	0.655000	0.942530	GTA		TCGA-IB-AAUQ-01A-22D-A40W-08	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	1	0	1	33	250	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1.000000	33	243	0	72	2								-20.000000	1	1	121412	6	39	1	0	0	0	1.992751	0	0.250000	1.930000	0.238579	0.910000	0.650000	1.000000	1.000000	0.897646	0.910000	1	7.700000e-01	1
EPHB2	2048	broad.mit.edu	37	1	23239043	23239043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:23239043G>A	ENST00000400191.3	+	15	2821	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T|EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2			56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)			GGAGAGCTTCGCCAATGCCGG	0.592000																								0							SO:0001583	missense			ENST00000400191.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	3.400000	-0.122403	0.067950	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	4.780000	3.850000	0.443700	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.066497	0.64402	N	0.000012	T	0.04227	0.0117	L	0.31664	0.95	0.807220	D	1.000000	B;B;B;B	0.17852	0.006;0.024;0.013;0.006	B;B;B;B	0.21708	0.0;0.036;0.014;0.005	T	0.20571	-1.0271	10	0.02654	T	1	.	8.422700	0.327100	0.0846:0.1545:0.7609:0.0	.	877;935;953;936	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	T	877;935;935;936;930	ENSP00000363761:A935T;ENSP00000383053:A935T;ENSP00000363763:A936T;ENSP00000363758:A930T	ENSP00000363755:A877T	A	+	1	0	EPHB2	23111630	1.000000	0.71417	9.990000e-01	0.593770	0.796000	0.449820	3.149000	0.50655	1.361000	0.459810	0.650000	0.862430	GCC		TCGA-IB-AAUQ-01A-22D-A40W-08	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	0	0	1	30	265	0	68	1	9.805506e-01	11	47	0	68	2		0	0	0	0	0	2	1	1.000000	30	259	0	68	2								-3.075757	1	1	121412	3	35	1	1	2	3	2.033892	0	0.250000	1.930000	0.254658	0.820000	0.570000	1.000000	1.000000	0.829043	0.820000	0	6.900000e-01	9.900000e-01
RUNX3	864	broad.mit.edu	37	1	25229012	25229012	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:25229012C>T	ENST00000308873.6	-	5	857	c.849G>A	c.(847-849)acG>acA	p.T283T	RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000338888.3_Silent_p.T297T|RUNX3_ENST00000399916.1_Silent_p.T297T|RUNX3_ENST00000496967.1_5'Flank	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3			18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)			TGCCCGAGGGCGTGGCGCTGT	0.701000																								0							SO:0001819	synonymous_variant			ENST00000308873.6	1	1	hg19	CCDS257.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	1	0	0	36	331	0	76	0	1.155721e-01	0	6	0	76	2		0	0	0	0	0	2	1	1.000000	36	323	0	75	2								-20.000000	1	1	121364	1	35	1	1	2	3	2.033892	0	0.250000	1.930000	0.254658	0.790000	0.560000	1.000000	1.000000	0.804545	0.790000	0	6.700000e-01	9.400000e-01
CDH22	64405	broad.mit.edu	37	20	44839199	44839199	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr20:44839199G>A	ENST00000372262.3	-	6	1433	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Splice_Site_p.R345C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2			44		Myeloproliferative disorder(115;0.0122)			AAGTCCAGGCGCTGCGGGAGG	0.672000																								0							SO:0001630	splice_region_variant			ENST00000372262.3	1	0	hg19	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	14.670000	2.603952	0.464230	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.54479	0.57;0.57	4.250000	0.999000	0.198620	Cadherin (5);Cadherin-like (1);	0.640659	0.15642	N	0.251802	T	0.42177	0.1191	L	0.59436	1.845	0.423000	D	0.992174	B	0.15473	0.013	B	0.10450	0.005	T	0.43491	-0.9388	10	0.87932	D	0	.	2.403000	0.044060	0.1653:0.1518:0.5267:0.1562	.	345	Q9UJ99	CAD22_HUMAN	C	345	ENSP00000361336:R345C;ENSP00000437790:R345C	ENSP00000361336:R345C	R	-	1	0	CDH22	44272606	1.000000	0.71417	9.950000e-01	0.509660	0.950000	0.603330	3.050000	0.49877	0.411000	0.257020	0.555000	0.697020	CGC		TCGA-IB-AAUQ-01A-22D-A40W-08	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	1	23	159	0	47	0	1.321096e-01	0	5	0	47	2		0	0	0	0	0	2	1	1.000000	21	157	0	46	2								-3.321266	1	1	0	0		1	0	0	0	1.973398	0	0.250000	1.930000	0.230769	0.980000	0.650000	1.000000	1.000000	0.924113	0.980000	1	8.000000e-01	1
KRTAP12-3	386683	broad.mit.edu	37	21	46078062	46078062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr21:46078062G>A	ENST00000397907.1	+	1	214	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3			7					CTCCGTGTGCGTGCCCGTGAG	0.642000																								0							SO:0001583	missense			ENST00000397907.1	1	1	hg19	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	g	9.432000	1.085873	0.203900	.	.	ENSG00000205439	ENST00000397907	T	0.08546	3.08	4.250000	-2.920000	0.056150	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.093100	N	1.000000	P	0.34587	0.458	B	0.22880	0.042	T	0.33599	-0.9862	8	0.45353	T	0.12	.	8.130500	0.310240	0.1538:0.4843:0.3619:0.0	.	56	P60328	KR123_HUMAN	M	56	ENSP00000381005:V56M	ENSP00000381005:V56M	V	+	1	0	KRTAP12-3	44902490	0.000000	0.05858	0	0.037020	0.003000	0.035180	-1.847000	0.01675	-0.473000	0.068710	-0.691000	0.037190	GTG		TCGA-IB-AAUQ-01A-22D-A40W-08	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1	1	0	1	54	390	1	120		0	0	0	1	120	2		0	0	0	0	0	2	1	1.000000	53	383	0	115	2								-19.797930	1	1	121242	7	41	1	0	0	0	1.998577	0	0.250000	1.930000	0.240506	0.950000	0.730000	1.000000	1.000000	0.932816	0.950000	1	8.400000e-01	1
TOMM22	56993	broad.mit.edu	37	22	39079827	39079827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:39079827C>T	ENST00000216034.4	+	4	441	c.410C>T	c.(409-411)tCa>tTa	p.S137L	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)			3	Melanoma(58;0.04)				GCTCTACCCTCACTTCCTGGA	0.433000																								0							SO:0001583	missense			ENST00000216034.4	1	1	hg19	CCDS13975.1	.	.	.	.	.	.	.	.	.	.	C	9.388000	1.074761	0.202270	.	.	ENSG00000100216	ENST00000216034	.	.	.	5.520000	3.440000	0.393840	.	0.176473	0.50627	D	0.000106	T	0.26846	0.0657	N	0.11560	0.145	0.328140	D	0.501897	B	0.02656	0.0	B	0.04013	0.001	T	0.20773	-1.0265	9	0.30078	T	0.28	-0.006	10.598600	0.453540	0.0:0.8507:0.0:0.1493	.	137	Q9NS69	TOM22_HUMAN	L	137	.	ENSP00000216034:S137L	S	+	2	0	TOMM22	37409773	1.000000	0.71417	9.990000e-01	0.593770	0.993000	0.825480	7.034000	0.76511	0.704000	0.318690	0.563000	0.778840	TCA		TCGA-IB-AAUQ-01A-22D-A40W-08	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320842.1	1	0	1	30	215	0	51	1	9.999999e-01	46	150	0	51	2		0	0	0	0	0	2	1	1.000000	30	214	0	51	2								-2.966982	1	1	0	0		1	1	2	3	2.026564	0	0.250000	1.930000	0.253731	0.990000	0.680000	1.000000	1.000000	0.933870	0.990000	1	8.200000e-01	1
CFLAR	8837	broad.mit.edu	37	2	201994665	201994665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:201994665G>A	ENST00000309955.3	+	2	592	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000395148.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator			13					TTTTTGTGCCGGGATGTTGCT	0.478000													Pancreas(16;548 657 22190 32864 42338)											0							SO:0001583	missense			ENST00000309955.3	0	1	hg19	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	15.180000	2.755828	0.493620	.	.	ENSG00000003402	ENST00000309955;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000433445;ENST00000423241;ENST00000425030;ENST00000417748;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T	0.48201	3.7;0.83;0.82;3.58;4.0;0.86;3.7;0.83;3.58	5.860000	4.050000	0.471720	DEATH-like (2);Death effector (3);	0.487974	0.22753	N	0.056053	T	0.56543	0.1992	L	0.60957	1.885	0.401490	D	0.976923	P;D;D;D;P;P;B	0.76494	0.956;0.998;0.998;0.999;0.744;0.777;0.449	P;P;P;D;B;B;B	0.65874	0.67;0.9;0.842;0.939;0.249;0.23;0.274	T	0.53690	-0.8403	10	0.27082	T	0.32	-12.9446	6.620700	0.228020	0.146:0.0:0.7082:0.1458	.	26;26;26;26;26;26;26	C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;CFLAR_HUMAN;.;.;.	Q	26	ENSP00000312455:R26Q;ENSP00000339335:R26Q;ENSP00000347757:R26Q;ENSP00000339326:R26Q;ENSP00000345807:R26Q;ENSP00000342809:R26Q;ENSP00000399420:R26Q;ENSP00000406775:R26Q;ENSP00000411535:R26Q	ENSP00000312455:R26Q	R	+	2	0	CFLAR	201702910	1.000000	0.71417	9.180000e-01	0.363400	0.539000	0.349620	3.319000	0.51983	0.805000	0.341590	0.563000	0.778840	CGG		TCGA-IB-AAUQ-01A-22D-A40W-08	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	0	0	0	6	716	0	164	0	2.284951e-01	0	93	0	164	2		0	0	0	0	0	2	1	0.963999	6	709	0	163	2								-1.751256	0	1	0	0		1	1	2	3	2.020854	0	0.250000	1.930000	0.251870	0.060000	0.020000	0.150000	0.060000	0.086277	0.060000	0	4.000000e-02	1.100000e-01
BIRC6	57448	broad.mit.edu	37	2	32774524	32774524	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:32774524T>C	ENST00000421745.2	+	65	13254	c.13120T>C	c.(13120-13122)Tca>Cca	p.S4374P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6			172	Acute lymphoblastic leukemia(172;0.155)				CCCAGCCATGTCATCTTATCT	0.393000													Pancreas(94;175 1509 16028 18060 45422)											0							SO:0001583	missense			ENST00000421745.2	1	1	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	20.700000	4.026649	0.753900	.	.	ENSG00000115760	ENST00000421745	T	0.76316	-1.01	5.430000	5.430000	0.792020	.	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	M	0.71036	2.16	0.807220	D	1.000000	P	0.47409	0.895	P	0.49528	0.614	D	0.85059	0.0933	10	0.87932	D	0	.	15.494800	0.756410	0.0:0.0:0.0:1.0	.	4374	Q9NR09	BIRC6_HUMAN	P	4374	ENSP00000393596:S4374P	ENSP00000393596:S4374P	S	+	1	0	BIRC6	32628028	1.000000	0.71417	1	0.803570	0.768000	0.435240	6.186000	0.72026	2.066000	0.617870	0.528000	0.532280	TCA		TCGA-IB-AAUQ-01A-22D-A40W-08	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	1	0	1	38	323	0	102	1	8.915874e-01	11	24	0	102	2		0	0	0	0	0	2	1	1.000000	38	315	0	99	2								-13.790630	1	1	0	0		1	1	2	3	2.020854	0	0.250000	1.930000	0.251870	0.840000	0.610000	1.000000	1.000000	0.846392	0.840000	0	7.200000e-01	9.900000e-01
CCDC80	151887	broad.mit.edu	37	3	112324405	112324405	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:112324405C>T	ENST00000206423.3	-	8	3665	c.2712G>A	c.(2710-2712)gcG>gcA	p.A904A	CCDC80_ENST00000439685.2_Silent_p.A904A	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80			51					ACTGCTGAATCGCCATTTCCT	0.473000																								0							SO:0001819	synonymous_variant			ENST00000206423.3	1	1	hg19	CCDS2968.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	1	0	1	33	233	0	82	1	1	96	519	0	82	2		0	0	0	0	0	2	1	1.000000	33	228	0	81	2								-3.319091	1	1	0	0		1	0	1	1	2.013302	0	0.250000	1.930000	0.248120	0.980000	0.700000	1.000000	1.000000	0.936725	0.980000	1	8.300000e-01	1
KALRN	8997	broad.mit.edu	37	3	123953690	123953690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:123953690C>T	ENST00000240874.3	+	3	314	c.157C>T	c.(157-159)Cga>Tga	p.R53*	KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R53*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase			83					TCGTGATAAGCGAGGCGGACC	0.507000																								0							SO:0001587	stop_gained			ENST00000240874.3	0	1	hg19	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	c	39.000000	7.391663	0.982550	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	.	.	.	5.490000	5.490000	0.811920	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.387800	0.945650	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000240874:R53X	R	+	1	2	KALRN	125436380	1.000000	0.71417	1	0.803570	0.954000	0.612520	2.304000	0.43655	2.573000	0.868260	0.651000	0.884530	CGA		TCGA-IB-AAUQ-01A-22D-A40W-08	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	0	0	0	9	61	0	22		0	0	0	0	22	2	1	1	154	998	1	1312	5	1	0.995256	9	61	0	22	2								-16.443380	1	1	0	0		1	0	1	1	2.013302	0	0.250000	1.930000	0.248120	0.990000	0.520000	1.000000	1.000000	0.907706	0.990000	1	7.400000e-01	1
OPA1	4976	broad.mit.edu	37	3	193374974	193374974	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:193374974G>C	ENST00000392438.3	+	21	2353	c.2119G>C	c.(2119-2121)Gaa>Caa	p.E707Q	OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q|OPA1_ENST00000361510.2_Missense_Mutation_p.E762Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)			31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)		TGTTAAGGAAGAAAGTATTAA	0.383000																								0							SO:0001583	missense			ENST00000392438.3	1	1	hg19	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	32.000000	5.192617	0.949600	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95622	-3.34;-3.35;-3.31;-3.33;-3.37;-3.76	5.780000	5.780000	0.914870	.	0.204266	0.53938	D	0.000049	D	0.97470	0.9172	M	0.69823	2.125	0.807220	D	1.000000	P;D;D;D;P;P;D;D	0.76494	0.943;0.999;0.967;0.967;0.95;0.943;0.997;0.969	P;D;P;P;P;P;D;P	0.75484	0.695;0.915;0.81;0.81;0.638;0.695;0.986;0.759	D	0.97412	1.0003	10	0.54805	T	0.06	-23.6123	18.996000	0.928130	0.0:0.0:1.0:0.0	.	671;707;689;708;725;744;726;762	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Q	744;707;762;726;725;708	ENSP00000354681:E744Q;ENSP00000376233:E707Q;ENSP00000355324:E762Q;ENSP00000355311:E726Q;ENSP00000354429:E725Q;ENSP00000354781:E708Q	ENSP00000354781:E708Q	E	+	1	0	OPA1	194857668	1.000000	0.71417	1	0.803570	0.997000	0.918780	9.751000	0.98889	2.722000	0.931590	0.655000	0.942530	GAA		TCGA-IB-AAUQ-01A-22D-A40W-08	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	1	0	1	61	478	0	133	1	9.359634e-01	9	29	0	133	2		0	0	0	0	0	2	1	1.000000	59	471	0	133	2								-19.984530	1	1	0	0		1	0	1	1	2.013302	0	0.250000	1.930000	0.248120	0.890000	0.700000	1.000000	1.000000	0.896238	0.890000	1	7.900000e-01	1
TOP2B	7155	broad.mit.edu	37	3	25641006	25641006	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:25641006C>A	ENST00000264331.4	-	35	4629	c.4630G>T	c.(4630-4632)Gca>Tca	p.A1544S	TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S|TOP2B_ENST00000435706.2_Missense_Mutation_p.A1539S	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa			36				Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTTTTCTTTGCCCCTCGGCCT	0.383000																								0							SO:0001583	missense			ENST00000264331.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.530000	3.644022	0.672440	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.47177	0.85;0.88;0.89;0.85	5.980000	5.980000	0.971650	DTHCT (1);	0.102593	0.64402	D	0.000002	T	0.35098	0.0920	N	0.08118	0	0.493890	D	0.999786	P;P	0.43231	0.801;0.763	P;B	0.46510	0.519;0.385	T	0.11941	-1.0567	10	0.05436	T	0.98	-16.4796	20.456100	0.991450	0.0:1.0:0.0:0.0	.	1544;1539	Q02880;Q02880-2	TOP2B_HUMAN;.	S	396;1539;1544;396	ENSP00000446023:A396S;ENSP00000396704:A1539S;ENSP00000264331:A1544S;ENSP00000437352:A396S	ENSP00000264331:A1544S	A	-	1	0	TOP2B	25616010	1.000000	0.71417	1	0.803570	0.994000	0.842990	3.563000	0.53784	2.847000	0.979880	0.591000	0.815410	GCA		TCGA-IB-AAUQ-01A-22D-A40W-08	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	20	88	0	24	1	1	54	191	0	24	2		0	0	0	0	0	2	1	0.999997	20	86	0	24	2								-13.922530	1	1	0	0		1	0	1	1	2.013302	0	0.250000	1.930000	0.248120	0.990000	0.940000	1.000000	1.000000	0.996565	0.990000	1	9.900000e-01	1
LRIG1	26018	broad.mit.edu	37	3	66434562	66434562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:66434562C>T	ENST00000273261.3	-	14	2448	c.1924G>A	c.(1924-1926)Gct>Act	p.A642T	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A666T	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1			42		Lung NSC(201;0.0101)			TCACGGGCAGCGGGGAAATCC	0.562000																								0							SO:0001583	missense			ENST00000273261.3	1	1	hg19	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	23.200000	4.385298	0.827920	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.66815	-0.23;-0.13	6.170000	6.170000	0.997090	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	L	0.43646	1.37	0.807220	D	1.000000	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78450	-0.2199	10	0.87932	D	0	.	20.879400	0.998670	0.0:1.0:0.0:0.0	.	666;642;642	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	T	642;666;545	ENSP00000273261:A642T;ENSP00000373208:A666T	ENSP00000273261:A642T	A	-	1	0	LRIG1	66517252	1.000000	0.71417	9.500000e-02	0.209760	0.015000	0.088740	7.818000	0.86416	2.941000	0.997820	0.655000	0.942530	GCT		TCGA-IB-AAUQ-01A-22D-A40W-08	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	0	0	0	21	432	0	122	0	6.557084e-01	0	47	0	122	2		0	0	0	0	0	2	1	0.999997	21	425	0	121	2								-4.116877	1	1	0	0		1	0	1	1	2.013302	0	0.250000	1.930000	0.248120	0.370000	0.230000	0.540000	0.360000	0.383271	0.370000	0	2.900000e-01	4.600000e-01
EVC	2121	broad.mit.edu	37	4	5755572	5755572	+	Missense_Mutation	SNP	C	C	T	rs146028983		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:5755572C>T	ENST00000264956.6	+	10	1560	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	EVC_ENST00000382674.2_Missense_Mutation_p.T459M|EVC_ENST00000509451.1_Missense_Mutation_p.T459M	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome			28		Myeloproliferative disorder(84;0.117)			GTGGAGGGAACGGCAAAACTC	0.567000																								0							SO:0001583	missense			ENST00000264956.6	1	1	hg19	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	13.870000	2.367170	0.419020	0.0	1.16E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.50813	0.73;0.73;0.79	5.040000	-4.460000	0.035360	.	1.022650	0.07791	N	0.955013	T	0.24967	0.0606	N	0.12182	0.205	0.093100	N	0.999999	B	0.18310	0.027	B	0.11329	0.006	T	0.19418	-1.0306	10	0.36615	T	0.2	.	7.472300	0.273550	0.1314:0.1965:0.0:0.6721	.	459	P57679	EVC_HUMAN	M	459	ENSP00000264956:T459M;ENSP00000372120:T459M;ENSP00000426774:T459M	ENSP00000264956:T459M	T	+	2	0	EVC	5806473	0.000000	0.05858	0	0.037020	0.620000	0.375860	-2.519000	0.00952	-0.827000	0.042780	0.561000	0.740990	ACG		TCGA-IB-AAUQ-01A-22D-A40W-08	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1	1	0	0	52	266	0	111	0	5.092002e-01	0	10	0	111	2		0	0	0	0	0	2	1	1.000000	51	264	0	111	2								-20.000000	1	1	121412	4	38	1	0	1	1	1.770512	1	0.250000	1.930000	0.142857	0.940000	0.780000	1.000000	0.990000	0.935229	0.940000	1	8.700000e-01	9.900000e-01
MYOT	9499	broad.mit.edu	37	5	137217667	137217667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:137217667G>A	ENST00000239926.4	+	6	1063	c.689G>A	c.(688-690)aGa>aAa	p.R230K	MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R115K|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin			23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		TGTAGAAGTAGATCAACCTCA	0.338000																								0							SO:0001583	missense			ENST00000239926.4	1	1	hg19	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	17.330000	3.362623	0.614030	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68479	-0.31;-0.24;-0.33	5.610000	5.610000	0.854770	.	0.138225	0.50627	D	0.000114	T	0.55673	0.1935	N	0.24115	0.695	0.431830	D	0.995004	B	0.26483	0.15	B	0.19946	0.027	T	0.50668	-0.8801	10	0.36615	T	0.2	.	19.628800	0.956910	0.0:0.0:1.0:0.0	.	230	Q9UBF9	MYOTI_HUMAN	K	230;46;115	ENSP00000239926:R230K;ENSP00000391185:R46K;ENSP00000426281:R115K	ENSP00000239926:R230K	R	+	2	0	MYOT	137245566	1.000000	0.71417	1	0.803570	0.973000	0.671790	7.845000	0.86875	2.644000	0.897100	0.591000	0.815410	AGA		TCGA-IB-AAUQ-01A-22D-A40W-08	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	1	0	1	46	237	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1.000000	46	232	0	76	2								-20.000000	1	1	0	0		1	1	2	3	2.022414	0	0.250000	1.930000	0.251870	0.990000	0.980000	1.000000	1.000000	0.998264	0.990000	1	9.900000e-01	1
DNAH5	1767	broad.mit.edu	37	5	13766211	13766211	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:13766211G>A	ENST00000265104.4	-	59	10079	c.9975C>T	c.(9973-9975)tgC>tgT	p.C3325C	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5			378	Lung NSC(4;0.00476)				GCAGCAGTACGCAATCCATGA	0.517000									Kartagener syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000265104.4	1	1	hg19	CCDS3882.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	1	0	1	62	385	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	1.000000	61	380	0	104	2								-3.222072	1	1	121412	2	36	1	1	2	3	2.022414	0	0.250000	1.930000	0.251870	0.990000	0.860000	1.000000	1.000000	0.988134	0.990000	1	9.800000e-01	1
PCDHA6	56142	broad.mit.edu	37	5	140209287	140209287	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140209287G>A	ENST00000529310.1	+	1	1725	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6			89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGGTGAGCGCGCGCGACGCGG	0.682000																								0							SO:0001819	synonymous_variant			ENST00000529310.1	1	1	hg19	CCDS47281.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	1	0	1	86	572	0	202		0	0	0	0	202	2		0	0	0	0	0	2	1	1.000000	83	531	0	203	2								-20.000000	1	1	0	0		1	1	2	3	2.022414	0	0.250000	1.930000	0.251870	0.990000	0.850000	1.000000	1.000000	0.979855	0.990000	1	9.400000e-01	1
PCDHA11	56138	broad.mit.edu	37	5	140248986	140248986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140248986G>A	ENST00000398640.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11			2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGGGCAGAGCGCGGAGTGCAG	0.562000																								0							SO:0001583	missense			ENST00000398640.2	1	1	hg19	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	8.885000	0.952502	0.184310	.	.	ENSG00000249158	ENST00000398640	T	0.38560	1.13	5.590000	-3.030000	0.054290	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28200	0.0696	L	0.35644	1.08	0.093100	N	1.000000	B;B	0.33212	0.055;0.402	B;B	0.24541	0.009;0.054	T	0.07908	-1.0748	9	0.39692	T	0.17	.	12.585800	0.564160	0.0:0.4551:0.3038:0.2411	.	100;100	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	100	ENSP00000381636:A100T	ENSP00000381636:A100T	A	+	1	0	PCDHA11	140229170	0.000000	0.05858	7.200000e-02	0.201360	0.403000	0.308410	-4.056000	0.00304	-0.519000	0.064440	-0.181000	0.130520	GCG		TCGA-IB-AAUQ-01A-22D-A40W-08	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	1	0	1	129	1024	0	316	0	0	0	1	0	316	2		0	0	0	0	0	2	1	1.000000	123	969	0	313	2								-20.000000	1	1	0	0		1	1	2	3	2.022414	0	0.250000	1.930000	0.251870	0.890000	0.750000	1.000000	1.000000	0.897824	0.890000	1	8.200000e-01	9.800000e-01
PCDHB6	56130	broad.mit.edu	37	5	140532201	140532201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140532201G>A	ENST00000231136.1	+	1	2363	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6			84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CCCACCTCTCGGAATAGCTTC	0.418000																								0							SO:0001583	missense			ENST00000231136.1	1	1	hg19	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	10.680000	1.417419	0.255520	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.13196	2.61;2.61	4.710000	-1.740000	0.080560	.	.	.	.	.	T	0.10035	0.0246	L	0.39633	1.23	0.093100	N	1.000000	B	0.22983	0.078	B	0.19148	0.024	T	0.30475	-0.9977	9	0.44086	T	0.13	.	6.495600	0.221400	0.2801:0.3536:0.3662:0.0	.	788	Q9Y5E3	PCDB6_HUMAN	Q	652;788	ENSP00000438466:R652Q;ENSP00000231136:R788Q	ENSP00000231136:R788Q	R	+	2	0	PCDHB6	140512385	0.000000	0.05858	1.000000e-03	0.086480	0.007000	0.059690	-0.899000	0.04101	-0.333000	0.084760	-1.660000	0.007510	CGG		TCGA-IB-AAUQ-01A-22D-A40W-08	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	1	0	0	21	228	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	0.999997	21	219	0	73	2								-7.763743	1	1	0	0		1	1	2	3	2.022414	0	0.250000	1.930000	0.251870	0.680000	0.430000	1.000000	0.670000	0.696042	0.680000	0	5.500000e-01	8.400000e-01
PCDHGA4	56111	broad.mit.edu	37	5	140734960	140734960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140734960C>T	ENST00000571252.1	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCGCGGAGTCCGCATCGTCTC	0.647000																								0							SO:0001583	missense			ENST00000571252.1	1	1	hg19	CCDS58979.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	0	0	0	19	476	1	159		0	0	0	1	159	2		0	0	0	0	0	2	1	0.916688	18	464	1	156	12								-3.118461	1	1	121370	5	41	1	1	2	3	2.022414	0	0.250000	1.930000	0.251870	0.310000	0.190000	0.490000	0.310000	0.327456	0.310000	0	2.400000e-01	3.900000e-01
FOXI1	2299	broad.mit.edu	37	5	169533031	169533031	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:169533031G>C	ENST00000306268.6	+	1	131	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	FOXI1_ENST00000449804.2_Missense_Mutation_p.E24Q			Q12951	FOXI1_HUMAN	forkhead box I1			35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		CATCGGCCAGGAGCCCCCCGA	0.701000									Pendred syndrome															0							SO:0001583	missense	Familial Cancer Database	Goiter-Deafness syndrome	ENST00000306268.6	1	1	hg19	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	23.100000	4.375475	0.826820	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.95137	-3.57;-3.62	4.500000	4.500000	0.549880	.	0.000000	0.85682	D	0.000000	D	0.96827	0.8964	M	0.73962	2.25	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.96	D	0.97246	0.9894	10	0.56958	D	0.05	.	17.215700	0.869430	0.0:0.0:1.0:0.0	.	24;24	Q12951-2;Q12951	.;FOXI1_HUMAN	Q	24	ENSP00000304286:E24Q;ENSP00000415483:E24Q	ENSP00000304286:E24Q	E	+	1	0	FOXI1	169465609	1.000000	0.71417	1	0.803570	0.922000	0.554780	9.655000	0.98512	2.056000	0.612490	0.491000	0.489740	GAG		TCGA-IB-AAUQ-01A-22D-A40W-08	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	1	0	0	10	126	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	0.996646	10	121	0	32	2								-14.567740	1	0	0	0		1	1	2	3	2.022414	0	0.250000	1.930000	0.251870	0.600000	0.310000	1.000000	1.000000	0.626226	0.600000	0	4.400000e-01	8.100000e-01
SPEF2	79925	broad.mit.edu	37	5	35771762	35771762	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:35771762C>A	ENST00000356031.3	+	27	4007	c.3853C>A	c.(3853-3855)Cca>Aca	p.P1285T	SPEF2_ENST00000440995.2_Missense_Mutation_p.P1280T|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2			37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		AGAAAACCAGCCAGCAGACCC	0.383000																								0							SO:0001583	missense			ENST00000356031.3	1	1	hg19	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	9.684000	1.150203	0.213710	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.05925	3.4;3.37	5.680000	0.750000	0.183870	.	0.878841	0.10350	N	0.685256	T	0.06781	0.0173	L	0.50333	1.59	0.093100	N	1.000000	B;B	0.16396	0.017;0.005	B;B	0.12156	0.007;0.002	T	0.38802	-0.9644	10	0.33141	T	0.24	.	6.862600	0.240760	0.2918:0.5705:0.0:0.1377	.	1280;1285	Q9C093-2;Q9C093	.;SPEF2_HUMAN	T	1285;1280	ENSP00000348314:P1285T;ENSP00000412125:P1280T	ENSP00000348314:P1285T	P	+	1	0	SPEF2	35807519	0.000000	0.05858	2.500000e-02	0.171560	0.998000	0.957120	0.441000	0.21611	-0.073000	0.128420	0.591000	0.815410	CCA		TCGA-IB-AAUQ-01A-22D-A40W-08	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	1	0	1	20	135	0	67	0	0	0	1	0	67	2		0	0	0	0	0	2	1	0.999996	20	133	0	66	2								-11.162690	1	1	0	0		1	1	2	3	2.022414	0	0.250000	1.930000	0.251870	0.990000	0.660000	1.000000	1.000000	0.940732	0.990000	1	8.300000e-01	1
LIFR	3977	broad.mit.edu	37	5	38493808	38493808	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:38493808G>A	ENST00000263409.4	-	14	2127	c.1965C>T	c.(1963-1965)tgC>tgT	p.C655C	LIFR_ENST00000453190.2_Silent_p.C655C|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha			78	all_lung(31;0.00021)				TGACGTAGTCGCAAGTCATGT	0.443000			T	PLAG1	salivary adenoma								Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0							SO:0001819	synonymous_variant			ENST00000263409.4	1	1	hg19	CCDS3927.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	1	0	1	44	401	0	141	0	1.033677e-02	0	2	0	141	2		0	0	0	0	0	2	1	1.000000	43	396	0	140	2								-3.142702	1	1	121412	5	40	1	1	2	3	2.022414	0	0.250000	1.930000	0.251870	0.790000	0.580000	1.000000	1.000000	0.801398	0.790000	0	6.800000e-01	9.200000e-01
ARHGAP18	93663	broad.mit.edu	37	6	129920398	129920398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:129920398C>T	ENST00000368149.2	-	12	1764	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	ARHGAP18_ENST00000463225.1_5'Flank	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18			18					ATATTTTTCTCGGTCATAAGC	0.294000																								0							SO:0001583	missense			ENST00000368149.2	1	1	hg19	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	22.200000	4.259937	0.802460	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.370000	5.370000	0.771650	.	0.062436	0.64402	D	0.000008	T	0.63861	0.2547	M	0.79258	2.445	0.445470	D	0.997506	P;D	0.61080	0.722;0.989	B;P	0.47376	0.117;0.545	T	0.68096	-0.5499	8	.	.	.	.	19.147400	0.934730	0.0:1.0:0.0:0.0	.	559;559	A9UK01;Q8N392	.;RHG18_HUMAN	Q	514;559	.	.	R	-	2	0	ARHGAP18	129962091	1.000000	0.71417	1	0.803570	0.995000	0.863560	5.248000	0.65421	2.511000	0.846710	0.650000	0.862430	CGA		TCGA-IB-AAUQ-01A-22D-A40W-08	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	1	0	1	16	197	0	70	1	9.452613e-01	8	55	0	70	2		0	0	0	0	0	2	1	0.999942	16	196	0	69	2								-3.318731	1	1	0	0		1	0	1	1	2.013119	0	0.250000	1.930000	0.248120	0.600000	0.360000	0.910000	0.600000	0.621371	0.600000	0	4.700000e-01	7.600000e-01
GLO1	2739	broad.mit.edu	37	6	38650584	38650584	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:38650584C>T	ENST00000373365.4	-	4	462	c.376G>A	c.(376-378)Ggt>Agt	p.G126S	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I			6				Glutathione(DB00143)|Indomethacin(DB00328)	GCAAACTTACCGAATCCTCGA	0.338000																								0							SO:0001630	splice_region_variant			ENST00000373365.4	0	1	hg19	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	C	25.100000	4.606204	0.871570	.	.	ENSG00000124767	ENST00000373365	T	0.69806	-0.43	5.710000	5.710000	0.891250	Glyoxalase/fosfomycin resistance/dioxygenase (1);Glyoxalase I, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.93375	3.41	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.88482	0.3069	9	.	.	.	-26.2595	19.478100	0.949960	0.0:1.0:0.0:0.0	.	126	Q04760	LGUL_HUMAN	S	126	ENSP00000362463:G126S	.	G	-	1	0	GLO1	38758562	1.000000	0.71417	1	0.803570	0.320000	0.282490	6.947000	0.75959	2.709000	0.925740	0.655000	0.942530	GGT		TCGA-IB-AAUQ-01A-22D-A40W-08	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	0	0	0	8	249	0	72	0	8.555623e-01	1	110	0	72	2		0	0	0	0	0	2	1	0.988819	8	244	0	71	2								-2.729060	1	1	0	0		1	0	1	1	2.015441	0	0.250000	1.930000	0.248120	0.250000	0.120000	0.460000	0.250000	0.274041	0.250000	0	1.800000e-01	3.600000e-01
CNTNAP2	26047	broad.mit.edu	37	7	147869372	147869372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:147869372C>T	ENST00000361727.3	+	18	3328	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2			188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		GGGCTGCATCCGCTCCTTGAG	0.542000										HNSCC(39;0.1)														0							SO:0001583	missense			ENST00000361727.3	1	1	hg19	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	24.500000	4.536423	0.858120	.	.	ENSG00000174469	ENST00000361727	T	0.81163	-1.46	5.410000	5.410000	0.785170	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	H	0.97962	4.115	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.95993	0.8987	10	0.87932	D	0	.	17.781700	0.885260	0.0:1.0:0.0:0.0	.	938	Q9UHC6	CNTP2_HUMAN	C	938	ENSP00000354778:R938C	ENSP00000354778:R938C	R	+	1	0	CNTNAP2	147500305	1.000000	0.71417	1	0.803570	0.996000	0.888480	4.729000	0.62008	2.552000	0.860800	0.655000	0.942530	CGC		TCGA-IB-AAUQ-01A-22D-A40W-08	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	1	0	1	57	236	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1.000000	57	233	0	57	2								-2.910009	1	1	121408	1	32	1	1	2	3	2.245585	1	0.250000	1.930000	0.331849	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNH2	3757	broad.mit.edu	37	7	150656796	150656796	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:150656796C>T	ENST00000262186.5	-	3	737	c.336G>A	c.(334-336)gtG>gtA	p.V112V	KCNH2_ENST00000392968.2_Silent_p.V16V|KCNH2_ENST00000430723.3_Silent_p.V112V	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2			42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TCACGGGCACCACATCCACCA	0.582000													GBM(137;110 1844 13671 20123 45161)											0							SO:0001819	synonymous_variant			ENST00000262186.5	1	1	hg19	CCDS5910.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	1	0	1	46	203	0	59	0	2.378216e-01	0	5	0	59	2		0	0	0	0	0	2	1	1.000000	45	197	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.245585	1	0.250000	1.930000	0.331849	0.990000	0.990000	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1
GLI3	2737	broad.mit.edu	37	7	42017203	42017203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:42017203T>G	ENST00000395925.3	-	12	1850	c.1766A>C	c.(1765-1767)aAt>aCt	p.N589T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3			112					ATCAGAGGCATTTGAGAAAGC	0.468000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense	Familial Cancer Database	;	ENST00000395925.3	0	1	hg19	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	21.300000	4.124654	0.774360	.	.	ENSG00000106571	ENST00000395925	T	0.16073	2.37	5.820000	5.820000	0.927950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	N	0.14661	0.345	0.807220	D	1.000000	D	0.89917	1.0	D	0.77557	0.99	T	0.15896	-1.0421	10	0.87932	D	0	.	16.191700	0.819920	0.0:0.0:0.0:1.0	.	589	P10071	GLI3_HUMAN	T	589	ENSP00000379258:N589T	ENSP00000379258:N589T	N	-	2	0	GLI3	41983728	1.000000	0.71417	4.530000e-01	0.270070	0.623000	0.376880	7.991000	0.88244	2.216000	0.718230	0.533000	0.621200	AAT		TCGA-IB-AAUQ-01A-22D-A40W-08	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	0	0	6	182	0	65	0	1.543125e-03	0	2	0	65	2		0	0	0	0	0	2	1	0.964557	6	180	0	65	2								-3.690352	1	1	0	0		1	2	3	5	2.273458	1	0.250000	1.930000	0.334812	0.350000	0.130000	1.000000	0.290000	0.474227	0.350000	0	2.200000e-01	1
DTX2	113878	broad.mit.edu	37	7	76112193	76112193	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:76112193C>T	ENST00000324432.5	+	5	1147	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	DTX2_ENST00000430490.2_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C|DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000446820.2_Missense_Mutation_p.R213C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase			27					CGTGTCAGGCCGCTACCGCCA	0.662000																								0							SO:0001583	missense			ENST00000324432.5	1	1	hg19	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	28.400000	4.918915	0.922490	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.14022	2.58;2.54;2.59;2.58;2.58;2.54	5.180000	5.180000	0.714440	.	0.116998	0.64402	D	0.000014	T	0.37625	0.1010	M	0.65498	2.005	0.807220	D	1.000000	D;D;D	0.89917	0.999;1.0;1.0	P;D;P	0.87578	0.899;0.998;0.891	T	0.09185	-1.0686	10	0.59425	D	0.04	-21.9242	17.673700	0.882240	0.0:1.0:0.0:0.0	.	122;213;213	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	C	213;213;122;122;213;213;213	ENSP00000322885:R213C;ENSP00000305242:R213C;ENSP00000397648:R122C;ENSP00000390218:R213C;ENSP00000411986:R213C;ENSP00000392545:R213C	ENSP00000305242:R213C	R	+	1	0	AC005522.1	75950129	1.000000	0.71417	1	0.803570	0.994000	0.842990	4.638000	0.61353	2.434000	0.824470	0.561000	0.740990	CGC		TCGA-IB-AAUQ-01A-22D-A40W-08	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2	1	0	0	30	660	0	158	0	4.922774e-01	1	36	0	158	2		0	0	0	0	0	2	1	1.000000	29	640	0	154	2								-3.005467	1	1	121412	3	38	1	1	2	3	2.256858	1	0.250000	1.930000	0.330357	0.390000	0.260000	1.000000	0.390000	0.417475	0.390000	0	3.200000e-01	4.800000e-01
PCLO	27445	broad.mit.edu	37	7	82791717	82791717	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:82791717C>T	ENST00000333891.9	-	1	529	c.192G>A	c.(190-192)caG>caA	p.Q64Q	PCLO_ENST00000423517.2_Silent_p.Q64Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein			259					TGGGCAGCCCCTGCGCCCTTG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000333891.9	0	1	hg19	CCDS47630.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	0	12	51	0	11	0	0	0	1	0	11	2		0	0	0	0	0	2	1	0.999430	12	51	0	11	2								-19.998680	1	1	0	0		1	1	2	3	2.256858	1	0.250000	1.930000	0.330357	0.990000	0.980000	1.000000	1.000000	0.996836	0.990000	1	9.900000e-01	1
PYCRL	65263	broad.mit.edu	37	8	144688047	144688047	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:144688047C>T	ENST00000220966.6	-	6	713	c.684G>A	c.(682-684)acG>acA	p.T228T	PYCRL_ENST00000377579.3_Silent_p.T79T|RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like			5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)	L-Proline(DB00172)	GCATCTTGGCCGTCCCCTGAG	0.687000																								0							SO:0001819	synonymous_variant			ENST00000220966.6	1	1	hg19	CCDS6407.2																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	1	0	1	30	211	0	52	1	6.481805e-01	5	12	0	52	2		0	0	0	0	0	2	1	1.000000	30	205	0	51	2								-2.807457	1	1	0	0		1	1	2	3	2.021269	0	0.250000	1.930000	0.251870	0.990000	0.690000	1.000000	1.000000	0.938621	0.990000	1	8.300000e-01	1
CSPP1	79848	broad.mit.edu	37	8	67998296	67998296	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:67998296A>T	ENST00000262210.5	+	4	393	c.362A>T	c.(361-363)cAt>cTt	p.H121L	COPS5_ENST00000519963.1_5'Flank|CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1			49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		CGGAAGAAACATAAATTAAAA	0.313000																								0							SO:0001583	missense			ENST00000262210.5	1	1	hg19	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	12.040000	1.818020	0.321450	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T;T	0.64618	-0.11;1.4	5.600000	4.450000	0.539870	.	0.267871	0.17979	U	0.155585	T	0.46889	0.1416	L	0.33485	1.01	0.807220	D	1.000000	B;B;B	0.26258	0.019;0.145;0.145	B;B;B	0.22753	0.007;0.041;0.041	T	0.48103	-0.9064	10	0.46703	T	0.11	-18.2211	6.276100	0.209810	0.7839:0.0:0.0742:0.1419	.	121;121;121	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	L	85;121;121	ENSP00000429546:H85L;ENSP00000262210:H121L	ENSP00000262210:H121L	H	+	2	0	CSPP1	68160850	1.000000	0.71417	1	0.803570	0.633000	0.380330	3.322000	0.52007	2.127000	0.655070	0.477000	0.441520	CAT		TCGA-IB-AAUQ-01A-22D-A40W-08	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	1	0	1	74	450	0	188	0	0	0	1	0	188	2		0	0	0	0	0	2	1	1.000000	74	438	0	187	2								-20.000000	1	1	0	0		1	0	1	1	1.764921	1	0.250000	1.930000	0.142857	0.920000	0.760000	1.000000	0.980000	0.914777	0.920000	1	8.400000e-01	9.800000e-01
KCNB2	9312	broad.mit.edu	37	8	73848876	73848876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:73848876G>A	ENST00000523207.1	+	3	1874	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2			85	Breast(64;0.137)		Epithelial(68;0.105)	Dalfampridine(DB06637)	GAGCAGAAACGCCAAGAGAAA	0.443000																								0							SO:0001583	missense			ENST00000523207.1	1	1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	23.300000	4.405528	0.832300	.	.	ENSG00000182674	ENST00000523207	D	0.97553	-4.43	5.610000	5.610000	0.854770	.	0.000000	0.46442	D	0.000294	D	0.98264	0.9425	M	0.72894	2.215	0.807220	D	1.000000	D	0.89917	1.0	D	0.73708	0.981	D	0.99174	1.0865	10	0.87932	D	0	.	19.625400	0.956760	0.0:0.0:1.0:0.0	.	429	Q92953	KCNB2_HUMAN	H	429	ENSP00000430846:R429H	ENSP00000430846:R429H	R	+	2	0	KCNB2	74011430	1.000000	0.71417	1	0.803570	0.996000	0.888480	9.869000	0.99810	2.633000	0.892460	0.563000	0.778840	CGC		TCGA-IB-AAUQ-01A-22D-A40W-08	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	1	40	264	0	86	0	0	0	1	0	86	2		0	0	0	0	0	2	1	1.000000	39	261	0	86	2								-3.319264	1	1	0	0		1	0	1	1	1.764921	1	0.250000	1.930000	0.142857	0.860000	0.650000	0.990000	0.900000	0.860287	0.860000	1	7.600000e-01	9.600000e-01
PAPPA	5069	broad.mit.edu	37	9	119106961	119106961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:119106961C>T	ENST00000328252.3	+	14	4120	c.3751C>T	c.(3751-3753)Cgg>Tgg	p.R1251W	PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1			98					GCTCCAGATACGGCGGGATGA	0.577000																								0							SO:0001583	missense			ENST00000328252.3	1	1	hg19	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	20.300000	3.965637	0.741310	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.77098	-1.07;-1.07	5.360000	5.360000	0.768440	Complement control module (2);Sushi/SCR/CCP (2);	0.387664	0.31554	N	0.007450	T	0.64560	0.2609	N	0.14661	0.345	0.364880	D	0.868287	P;D	0.53151	0.927;0.958	B;B	0.39152	0.292;0.255	T	0.73639	-0.3919	10	0.46703	T	0.11	-8.643	19.447200	0.948520	0.0:1.0:0.0:0.0	.	289;1251	F5GZ19;Q13219	.;PAPP1_HUMAN	W	1251;289	ENSP00000330658:R1251W;ENSP00000441461:R289W	ENSP00000330658:R1251W	R	+	1	2	PAPPA	118146782	1.000000	0.71417	1	0.803570	0.953000	0.610140	6.982000	0.76173	2.669000	0.908350	0.655000	0.942530	CGG		TCGA-IB-AAUQ-01A-22D-A40W-08	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	1	0	1	19	170	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	0.999982	19	152	0	58	2								-20.000000	1	1	121412	1	27	1	0	1	1	2.012202	0	0.250000	1.930000	0.248120	0.800000	0.500000	1.000000	1.000000	0.806146	0.800000	0	6.400000e-01	9.900000e-01
ODF2	4957	broad.mit.edu	37	9	131246280	131246280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:131246280G>A	ENST00000434106.3	+	11	1414	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000393527.3_Missense_Mutation_p.A327T|ODF2_ENST00000604420.1_Missense_Mutation_p.A351T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T|ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	p.A327T(1)|p.A351T(1)|p.A395T(1)		37					GCATTTGCAGGCACAGCTTCG	0.532000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000434106.3	0	1	hg19	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	13.530000	2.263551	0.399950	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.91;1.0;1.0;1.0	5.800000	4.720000	0.597630	.	0.339216	0.32287	N	0.006313	T	0.24236	0.0587	N	0.12182	0.205	0.807220	D	1.000000	B;B;B;B;B;B;B;B;B;B	0.11235	0.001;0.001;0.002;0.001;0.004;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B;B	0.09377	0.001;0.004;0.003;0.003;0.004;0.004;0.004;0.002;0.004;0.004	T	0.06917	-1.0800	10	0.12430	T	0.62	-13.1102	14.489600	0.676420	0.084:0.0:0.916:0.0	.	332;346;270;285;351;395;346;332;351;327	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	T	351;395;346;351;327;270;332;332	ENSP00000377166:A351T;ENSP00000361901:A395T;ENSP00000342581:A346T;ENSP00000361882:A351T;ENSP00000307781:A327T;ENSP00000396687:A270T;ENSP00000437579:A332T;ENSP00000361877:A332T	ENSP00000307781:A327T	A	+	1	0	ODF2	130286101	1.000000	0.71417	1	0.803570	0.948000	0.599010	4.174000	0.58256	2.749000	0.943140	0.655000	0.942530	GCA		TCGA-IB-AAUQ-01A-22D-A40W-08	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3	0	0	0	5	367	0	97	0	5.250612e-02	0	22	0	97	2		0	0	0	0	0	2	1	0.935702	5	362	0	97	2								-4.966651	1	1	0	0		1	0	1	1	2.012202	0	0.250000	1.930000	0.248120	0.110000	0.030000	0.240000	0.110000	0.126982	0.110000	0	7.000000e-02	1.800000e-01
SMARCA2	6595	broad.mit.edu	37	9	2054681	2054681	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:2054681C>T	ENST00000382203.1	+	6	1340	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000357248.2_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2			56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)			CCAAAGCAACCGTGGAACTAA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000382203.1	1	1	hg19	CCDS34977.1																																																																																				TCGA-IB-AAUQ-01A-22D-A40W-08	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	1	0	1	70	397	0	110	0	8.609310e-01	1	21	0	110	2		0	0	0	0	0	2	1	1.000000	70	395	0	109	2								-2.445026	0	1	121412	1	32	1	0	2	2	2.011948	1	0.250000	1.930000	0.250000	0.990000	0.950000	1.000000	1.000000	0.997274	0.990000	1	9.900000e-01	1
GBA2	57704	broad.mit.edu	37	9	35738753	35738753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:35738753C>T	ENST00000378103.3	-	12	2466	c.1943G>A	c.(1942-1944)tGt>tAt	p.C648Y	GBA2_ENST00000378094.4_Missense_Mutation_p.C648Y|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y|GBA2_ENST00000378088.1_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2			21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		CCTTACTAGACACACAGGCCA	0.522000																								0							SO:0001583	missense			ENST00000378103.3	1	1	hg19	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	19.560000	3.850912	0.717190	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	6.080000	5.180000	0.714440	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.78049	2.395	0.807220	D	1.000000	B;D;B	0.71674	0.202;0.998;0.241	B;D;B	0.67548	0.097;0.952;0.157	T	0.81068	-0.1100	9	0.87932	D	0	-15.2752	13.462700	0.612350	0.0:0.9284:0.0:0.0716	.	654;648;648	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	Y	648;648;654	.	ENSP00000367334:C648Y	C	-	2	0	GBA2	35728753	1.000000	0.71417	1	0.803570	0.998000	0.957120	7.709000	0.84645	1.590000	0.499950	0.655000	0.942530	TGT		TCGA-IB-AAUQ-01A-22D-A40W-08	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	1	0	1	25	282	0	89	1	9.405275e-01	9	47	0	89	2		0	0	0	0	0	2	1	1.000000	25	280	0	88	2								-20.000000	1	0	0	0		1	0	2	2	2.011948	1	0.250000	1.930000	0.250000	0.650000	0.430000	0.910000	0.640000	0.666145	0.650000	0	5.300000e-01	7.900000e-01
FGF13	2258	broad.mit.edu	37	X	137715118	137715118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chrX:137715118C>T	ENST00000315930.6	-	5	1292	c.631G>A	c.(631-633)Gat>Aat	p.D211N	FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13			24	Acute lymphoblastic leukemia(192;0.000127)				TCCGTGAGATCGTGCAGTGAT	0.483000																								0							SO:0001583	missense			ENST00000315930.6	1	1	hg19	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	17.280000	3.350265	0.611830	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198	T;T;T;T;T;D	0.81739	-0.21;-0.21;-0.21;-0.21;-0.21;-1.53	5.880000	5.880000	0.946010	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.38175	1.15	0.807220	D	1.000000	B;B;B;B	0.29936	0.114;0.262;0.182;0.23	B;B;B;B	0.20184	0.012;0.018;0.028;0.019	T	0.71126	-0.4683	10	0.44086	T	0.13	.	18.049600	0.893430	0.0:1.0:0.0:0.0	.	165;221;158;211	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	N	211;158;192;221;165;221	ENSP00000322390:D211N;ENSP00000303391:D158N;ENSP00000409276:D192N;ENSP00000359635:D221N;ENSP00000437903:D165N;ENSP00000396198:D221N	ENSP00000303391:D158N	D	-	1	0	FGF13	137542784	1.000000	0.71417	9.820000e-01	0.441460	0.920000	0.552020	7.487000	0.81328	2.485000	0.838780	0.600000	0.829820	GAT		TCGA-IB-AAUQ-01A-22D-A40W-08	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	1	0	1	48	176	0	66	0	2.980665e-01	0	5	0	66	2		0	0	0	0	0	2	1	1.000000	47	172	0	65	2								-20.000000	1	1	0	0		1	0	1	1			0.250000	1.930000	0.250000	0.830000	0.640000	0.980000	0.850000	0.835241	0.830000	0	7.300000e-01	9.300000e-01
