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
TP53	7157	broad.mit.edu	37	17	7578199	7578200	+	Frame_Shift_Ins	INS	-	-	CC	rs35163653	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			-	CC	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:7578199_7578200insCC	ENST00000269305.4	-	6	838_839	c.649_650insGG	c.(649-651)gtgfs	p.V217fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V217fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V217fs	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.?(11)|p.0?(8)|p.V217A(5)|p.V217E(3)|p.V217G(3)|p.V217L(2)|p.D208fs*1(1)|p.V216fs*28(1)|p.V217fs*33(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V217fs*5(1)|p.V217del(1)|p.S215fs*27(1)|p.S215_V218>M(1)|p.V216_Y220delVVVPY(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ATAGGGCACCACCACACTATGT	0.545000		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	44	Substitution - Missense(13)|Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(5)|Deletion - In frame(3)|Insertion - Frameshift(2)|Complex - deletion inframe(2)						SO:0001589	frameshift_variant	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	0	1	hg19	CCDS11118.1																																																																																				TCGA-2J-AABI-01A-12D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	0	53	145	0	32	0	9.986863e-01	0	31	0	32	2								1	1.000000	53	145	0	32	2								-20.000000	1	1	0	0		1	0	3	3	1.570235	1	0.540000	3.450000	0.614869	0.990000	9.300000e-01	1.000000	1.000000	0.996291	0.990000	1	0.990000	1.000000
SMAD4	4089	broad.mit.edu	37	18	48584730	48584730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr18:48584730delG	ENST00000342988.3	+	7	1346	c.808delG	c.(808-810)ggafs	p.G270fs	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.G270fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			CACCTGGACTGGAAGTAGGAC	0.443000																								38	Whole gene deletion(36)|Unknown(2)						SO:0001589	frameshift_variant			ENST00000342988.3	0	1	hg19	CCDS11950.1																																																																																				TCGA-2J-AABI-01A-12D-A40W-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	0	0	188	410	0	88	1	9.999956e-01	7	35	0	88	2								1	1.000000	194	403	2	86	30								-13.549960	1	1	0	0		1	0	2	2	1.463131	1	0.540000	3.450000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	0.999817	0.990000	1	0.990000	1.000000
LRP4	4038	broad.mit.edu	37	11	46894718	46894718	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:46894718G>A	ENST00000378623.1	-	30	4758	c.4516C>T	c.(4516-4518)Cgg>Tgg	p.R1506W	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4			70					AGGACCTTCCGCTCAGAACCA	0.537000																								0							SO:0001583	missense			ENST00000378623.1	0	1	hg19	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571882	0.86542	.	.	ENSG00000134569	ENST00000378623	D	0.97665	-4.48	5.91	2.57	0.30868	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99809	1.1040	10	0.87932	D	0	.	15.2244	0.73339	0.0:0.0:0.5292:0.4708	.	1506	O75096	LRP4_HUMAN	W	1506	ENSP00000367888:R1506W	ENSP00000367888:R1506W	R	-	1	2	LRP4	46851294	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.156000	0.42310	0.593000	0.29745	0.655000	0.94253	CGG		TCGA-2J-AABI-01A-12D-A40W-08	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	0	0	0	127	252	0	64	1	9.980570e-01	12	10	0	64	2								1	1.000000	125	248	0	64	2								-12.667360	1	1	121412	3	34	1	2	2	4	2.265177	1	0.540000	3.450000	0.701299	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-2J-AABI-01A-12D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	262	175	1	72	1	1	32	10	1	72	4								1	1.000000	257	174	0	71	2								-20.000000	1	1	0	0		1	2	8	10	4.579651	1	0.540000	3.450000	0.854430	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SLC38A1	81539	broad.mit.edu	37	12	46599923	46599923	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:46599923C>T	ENST00000398637.5	-	9	1280	c.586G>A	c.(586-588)Gtt>Att	p.V196I	SLC38A1_ENST00000439706.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000552197.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000549049.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000546893.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1			23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		ACCACCAGAACGCGGCCATCC	0.393000																								0							SO:0001583	missense			ENST00000398637.5	0	1	hg19	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100901	0.20552	0.0	1.21E-4	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26	5.7	-5.61	0.02489	.	0.669277	0.13946	N	0.351847	T	0.00815	0.0027	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.12630	0.006;0.003;0.0	B;B;B	0.13407	0.009;0.005;0.003	T	0.44050	-0.9353	10	0.29301	T	0.29	-0.7853	2.2946	0.04147	0.2037:0.2101:0.3999:0.1863	.	196;196;196	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	I	196	ENSP00000449607:V196I;ENSP00000398142:V196I;ENSP00000381634:V196I;ENSP00000447853:V196I;ENSP00000449756:V196I	ENSP00000381634:V196I	V	-	1	0	SLC38A1	44886190	0.000000	0.05858	0.001000	0.08648	0.650000	0.38633	-0.721000	0.04963	-0.512000	0.06505	-0.463000	0.05309	GTT		TCGA-2J-AABI-01A-12D-A40W-08	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2	0	0	0	5	166	0	27	1	9.985998e-02	3	12	0	27	2								1	0.935541	5	163	0	27	2								-7.070014	1	1	120866	2	34	1	0	2	2	1.499980	1	0.540000	3.450000	0.540000	0.110000	4.000000e-02	0.240000	0.110000	0.127800	0.110000	0	0.070000	0.180000
KCNA6	3742	broad.mit.edu	37	12	4920048	4920048	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:4920048C>T	ENST00000280684.3	+	1	1707	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R281C			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6			49				Dalfampridine(DB06637)	GCTCCTGGTGCGCTTCTCCGC	0.542000										HNSCC(72;0.22)														0							SO:0001583	missense			ENST00000280684.3	0	1	hg19	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560274	0.65538	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.98732	-5.1;-5.1	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.99847	4.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97514	1.0068	10	0.87932	D	0	.	13.0973	0.59200	0.16:0.84:0.0:0.0	.	281	P17658	KCNA6_HUMAN	C	281	ENSP00000408321:R281C;ENSP00000280684:R281C	ENSP00000280684:R281C	R	+	1	0	KCNA6	4790309	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.317000	0.43770	2.746000	0.94184	0.655000	0.94253	CGC		TCGA-2J-AABI-01A-12D-A40W-08	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	0	0	0	168	802	1	73		0	0	0	1	73	2								1	1.000000	166	791	1	70	38								-20.000000	1	1	0	0		1	2	9	11	4.778521	1	0.540000	3.450000	0.859935	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SLC8A3	6547	broad.mit.edu	37	14	70517819	70517819	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:70517819C>T	ENST00000381269.2	-	6	2790	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SLC8A3_ENST00000394330.2_Silent_p.T36T|SLC8A3_ENST00000356921.2_Silent_p.T673T|SLC8A3_ENST00000528359.1_Silent_p.T677T|SLC8A3_ENST00000216568.7_Silent_p.T50T|SLC8A3_ENST00000357887.3_Silent_p.T677T|SLC8A3_ENST00000533541.1_Silent_p.T36T|SLC8A3_ENST00000534137.1_Silent_p.T676T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3			54					GTTTGTCCACCGTAGTCTGTT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000381269.2	0	1	hg19	CCDS35498.1																																																																																				TCGA-2J-AABI-01A-12D-A40W-08	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1	0	0	0	93	83	0	56		0	0	0	0	56	2								1	1.000000	92	82	0	56	2								-19.999970	1	1	121412	3	32	1	0	2	2	1.482885	1	0.540000	3.450000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
VPS13C	54832	broad.mit.edu	37	15	62232964	62232964	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:62232964T>C	ENST00000261517.5	-	47	5556	c.5483A>G	c.(5482-5484)aAt>aGt	p.N1828S	VPS13C_ENST00000395896.4_Missense_Mutation_p.N1828S|VPS13C_ENST00000395898.3_Missense_Mutation_p.N1785S|VPS13C_ENST00000249837.3_Missense_Mutation_p.N1785S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)			117					TTCAATGTCATTTTGTGGCAA	0.333000																								0							SO:0001583	missense			ENST00000261517.5	0	1	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	0.137	-1.107141	0.01813	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.13657	2.57;2.57;2.57	5.15	-0.383	0.12477	.	0.958623	0.08693	N	0.907579	T	0.07188	0.0182	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.0;0.007;0.0	T	0.37596	-0.9699	10	0.10902	T	0.67	.	16.7954	0.85600	0.0:0.0:0.7831:0.2169	.	1785;1828;1785;1828	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	1785;1828;1828;1828	ENSP00000249837:N1785S;ENSP00000261517:N1828S;ENSP00000379233:N1828S	ENSP00000249837:N1785S	N	-	2	0	VPS13C	60020256	0.000000	0.05858	0.038000	0.18304	0.291000	0.27294	-0.102000	0.10956	-0.049000	0.13379	0.374000	0.22700	AAT		TCGA-2J-AABI-01A-12D-A40W-08	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	0	0	0	97	220	0	49	1	3.612524e-01	2	2	0	49	2								1	1.000000	96	219	0	49	2								-20.000000	1	1	0	0		1	2	2	4	2.231649	1	0.540000	3.450000	0.701299	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
IGDCC3	9543	broad.mit.edu	37	15	65667682	65667682	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:65667682G>A	ENST00000327987.4	-	2	413	c.162C>T	c.(160-162)gtC>gtT	p.V54V		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3			30					GCTGCCCGGGGACGGCAACAT	0.577000																								0							SO:0001819	synonymous_variant			ENST00000327987.4	0	1	hg19	CCDS10205.1																																																																																				TCGA-2J-AABI-01A-12D-A40W-08	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	0	0	0	57	80	0	22		0	0	0	0	22	2								1	1.000000	56	80	0	22	2								-20.000000	1	1	0	0		1	2	2	4	2.231649	1	0.540000	3.450000	0.701299	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
NEO1	4756	broad.mit.edu	37	15	73528770	73528770	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:73528770G>A	ENST00000339362.5	+	9	1821	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	NEO1_ENST00000261908.6_Silent_p.T458T|NEO1_ENST00000558964.1_Silent_p.T458T|NEO1_ENST00000560262.1_Silent_p.T458T|NEO1_ENST00000560352.1_3'UTR			Q92859	NEO1_HUMAN	neogenin 1	p.T458T(1)		57					TCAAATTGACGTGGCGGACAC	0.557000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000339362.5	0	1	hg19	CCDS10247.1																																																																																				TCGA-2J-AABI-01A-12D-A40W-08	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	0	0	0	205	312	0	97	1	1	28	35	0	97	2								1	1.000000	198	308	0	97	2								-20.000000	1	1	121412	1	33	1	2	2	4	2.231649	1	0.540000	3.450000	0.701299	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TSC2	7249	broad.mit.edu	37	16	2115574	2115574	+	Missense_Mutation	SNP	G	G	A	rs137854159		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:2115574G>A	ENST00000219476.3	+	16	2284	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	TSC2_ENST00000353929.4_Missense_Mutation_p.A552T|TSC2_ENST00000439673.2_Missense_Mutation_p.A515T|TSC2_ENST00000401874.2_Missense_Mutation_p.A552T|TSC2_ENST00000350773.4_Missense_Mutation_p.A552T|TSC2_ENST00000382538.6_Missense_Mutation_p.A503T|TSC2_ENST00000568454.1_Missense_Mutation_p.A563T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	p.A552T(1)		56		Hepatocellular(780;0.0202)			GGATGTGGCCGCATACTCGGC	0.622000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	0	1	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	g	9.908	1.208749	0.22205	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.89050	-2.41;-2.37;-2.37;-2.46;-2.42;-2.4	5.46	2.03	0.26663	Armadillo-type fold (1);	0.566436	0.19631	N	0.109677	T	0.75162	0.3812	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.30281	0.175;0.275;0.014;0.275;0.236;0.198	B;B;B;B;B;B	0.29663	0.105;0.093;0.01;0.093;0.049;0.058	T	0.61840	-0.6980	10	0.21540	T	0.41	-5.6476	6.7396	0.23428	0.0917:0.0:0.4303:0.4781	.	503;515;552;552;552;552	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	T	552;552;552;515;503;552	ENSP00000219476:A552T;ENSP00000384468:A552T;ENSP00000248099:A552T;ENSP00000399232:A515T;ENSP00000371978:A503T;ENSP00000344383:A552T	ENSP00000219476:A552T	A	+	1	0	TSC2	2055575	0.287000	0.24315	0.001000	0.08648	0.009000	0.06853	1.799000	0.38824	0.609000	0.30018	0.561000	0.74099	GCA		TCGA-2J-AABI-01A-12D-A40W-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	0	0	0	7	930	1	156	0	1.073293e-02	0	49	1	156	3								0	0.006874	7	895	1	154	20								-1.737951	0	1	0	0		1	3	3	6	2.345484	1	0.540000	3.450000	0.719032	0.050000	0	1.000000	0.040000	0.272145	0.050000	0	0.020000	1.000000
CHD9	80205	broad.mit.edu	37	16	53265573	53265573	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:53265573C>G	ENST00000398510.3	+	9	2475	c.2388C>G	c.(2386-2388)taC>taG	p.Y796*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.Y796*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9			78		all_cancers(37;0.0212)			TTATTTACTACTTAGTAAAAT	0.294000																								0							SO:0001587	stop_gained			ENST00000398510.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	41	8.572997	0.98868	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	.	.	.	5.3	4.35	0.52113	.	0.000000	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0301	8.9015	0.35497	0.0:0.783:0.0:0.217	.	.	.	.	X	796;796;322	.	ENSP00000219084:Y322X	Y	+	3	2	CHD9	51823074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.904000	0.28491	1.240000	0.43803	0.655000	0.94253	TAC		TCGA-2J-AABI-01A-12D-A40W-08	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	0	0	0	32	73	0	13	0	2.289243e-01	1	2	0	13	2								1	1.000000	31	73	0	13	2								-20.000000	1	1	0	0		1	3	3	6	2.418266	1	0.540000	3.450000	0.726256	0.990000	9.900000e-01	1.000000	1.000000	0.999996	0.990000	1	0.990000	1.000000
SCN4A	6329	broad.mit.edu	37	17	62036708	62036708	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:62036708C>T	ENST00000435607.1	-	12	2012	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D646N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit			101				Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGATGCTGTCGAAGATATTC	0.547000																								0							SO:0001583	missense			ENST00000435607.1	0	1	hg19	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	35	5.589870	0.96590	.	.	ENSG00000007314	ENST00000435607	D	0.99376	-5.79	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97220	0.9877	10	0.87932	D	0	.	17.3545	0.87332	0.0:1.0:0.0:0.0	.	646	P35499	SCN4A_HUMAN	N	646	ENSP00000396320:D646N	ENSP00000396320:D646N	D	-	1	0	SCN4A	59390440	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.571000	0.82399	2.573000	0.86826	0.556000	0.70494	GAC		TCGA-2J-AABI-01A-12D-A40W-08	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	85	137	0	28		0	0	0	0	28	2								1	1.000000	84	134	0	28	2								-13.179480	1	1	0	0		1	3	3	6	2.384195	1	0.540000	3.450000	0.722691	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
NPTX1	4884	broad.mit.edu	37	17	78449379	78449379	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:78449379G>A	ENST00000306773.4	-	2	741	c.584C>T	c.(583-585)aCc>aTc	p.T195I	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I			11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		CCTCTCCTCGGTGTCGTTCCT	0.652000																								0							SO:0001583	missense			ENST00000306773.4	0	1	hg19	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576629	0.45902	.	.	ENSG00000171246	ENST00000306773	T	0.11712	2.75	3.6	3.6	0.41247	.	0.182364	0.46442	D	0.000283	T	0.15003	0.0362	M	0.65975	2.015	0.43622	D	0.996006	P	0.50710	0.938	B	0.41860	0.368	T	0.08868	-1.0701	10	0.54805	T	0.06	-19.859	14.5266	0.67892	0.0:0.0:1.0:0.0	.	195	Q15818	NPTX1_HUMAN	I	195	ENSP00000307549:T195I	ENSP00000307549:T195I	T	-	2	0	NPTX1	76063974	1.000000	0.71417	0.961000	0.40146	0.720000	0.41350	4.073000	0.57570	2.010000	0.58986	0.561000	0.74099	ACC		TCGA-2J-AABI-01A-12D-A40W-08	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1	0	0	0	64	98	0	19	0	0	0	1	0	19	2								1	1.000000	61	93	0	19	2								-20.000000	1	1	0	0		1	3	3	6	2.384195	1	0.540000	3.450000	0.722691	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
APCDD1	147495	broad.mit.edu	37	18	10472020	10472020	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr18:10472020C>T	ENST00000355285.5	+	3	1090	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1			22					GATGTTCTACCGGCCCTCCAG	0.537000																								0							SO:0001583	missense			ENST00000355285.5	0	1	hg19	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753818	0.69648	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.22539	1.95	5.3	4.43	0.53597	.	0.049712	0.85682	D	0.000000	T	0.48840	0.1522	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55872	-0.8072	10	0.87932	D	0	-42.2491	14.5639	0.68162	0.2645:0.7355:0.0:0.0	.	246	Q8J025	APCD1_HUMAN	W	246;297	ENSP00000347433:R246W	ENSP00000347433:R246W	R	+	1	2	APCDD1	10462020	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	0.987000	0.29603	1.221000	0.43506	0.655000	0.94253	CGG		TCGA-2J-AABI-01A-12D-A40W-08	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	0	0	0	206	382	0	111	0	1	0	94	0	111	2								1	1.000000	204	376	0	110	2								-19.406890	1	1	121410	2	38	1	2	2	4	2.138349	1	0.540000	3.450000	0.691565	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ABHD8	79575	broad.mit.edu	37	19	17405126	17405126	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:17405126G>A	ENST00000247706.3	-	4	1359	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8			9					TCCTCCACCGGCACAAACTTA	0.672000													Ovarian(156;1368 2543 15275 41187)											0							SO:0001583	missense			ENST00000247706.3	0	1	hg19	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273390	0.80580	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.70516	-0.49	5.28	5.28	0.74379	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	L	0.46157	1.445	0.80722	D	1	P	0.46395	0.877	P	0.51016	0.656	T	0.69993	-0.4994	10	0.29301	T	0.29	-28.0008	16.4003	0.83639	0.0:0.0:1.0:0.0	.	374	Q96I13	ABHD8_HUMAN	S	374;320	ENSP00000247706:P374S	ENSP00000247706:P374S	P	-	1	0	ABHD8	17266126	1.000000	0.71417	0.996000	0.52242	0.529000	0.34654	9.385000	0.97223	2.470000	0.83445	0.655000	0.94253	CCG		TCGA-2J-AABI-01A-12D-A40W-08	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	0	0	0	4	157	0	38	0	4.243710e-01	0	49	0	38	2								1	0.853119	4	135	0	38	2								-2.491874	0	1	0	0		1	0	3	3	1.685354	1	0.540000	3.450000	0.621711	0.130000	3.000000e-02	1.000000	0.110000	0.268346	0.130000	0	0.070000	0.320000
MPV17L2	84769	broad.mit.edu	37	19	18306860	18306860	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:18306860G>A	ENST00000599612.2	+	5	716	c.616G>A	c.(616-618)Gac>Aac	p.D206N		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2			4					CACCCGAGCAGACTGAACTGT	0.607000																								0							SO:0001583	missense			ENST00000599612.2	0	1	hg19	CCDS42522.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675021	0.29783	.	.	ENSG00000254858	ENST00000534474;ENST00000247712	D	0.90444	-2.67	3.14	-1.29	0.09288	.	5.004980	0.01915	U	0.040100	D	0.86171	0.5869	L	0.43152	1.355	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.70472	-0.4862	10	0.72032	D	0.01	-0.1015	5.0135	0.14324	0.0:0.2321:0.4067:0.3611	.	206	Q567V2	M17L2_HUMAN	N	181;206	ENSP00000247712:D206N	ENSP00000247712:D206N	D	+	1	0	MPV17L2	18167860	0.003000	0.15002	0.000000	0.03702	0.041000	0.13682	0.037000	0.13840	-0.226000	0.09899	0.561000	0.74099	GAC		TCGA-2J-AABI-01A-12D-A40W-08	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	0	0	0	91	68	0	46	1	1	19	14	0	46	2								1	1.000000	89	67	0	46	2								-20.000000	1	1	0	0		1	0	3	3	1.630051	1	0.540000	3.450000	0.623383	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ZNF283	284349	broad.mit.edu	37	19	44351438	44351438	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:44351438C>T	ENST00000324461.7	+	7	982	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H90Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283			8		Prostate(69;0.0352)			TGAGAGAACTCATACAGCTGA	0.368000																								0							SO:0001583	missense			ENST00000324461.7	0	1	hg19	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878023	0.51801	.	.	ENSG00000167637	ENST00000324461	T	0.67523	-0.27	3.58	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80396	0.4615	M	0.92268	3.29	0.80722	D	1	D	0.61697	0.99	P	0.57057	0.812	T	0.82206	-0.0572	9	0.66056	D	0.02	.	9.3577	0.38177	0.0:0.8889:0.0:0.1111	.	229	Q8N7M2	ZN283_HUMAN	Y	229	ENSP00000327314:H229Y	ENSP00000327314:H229Y	H	+	1	0	ZNF283	49043278	0.129000	0.22400	0.854000	0.33618	0.826000	0.46750	1.563000	0.36364	0.813000	0.34350	0.563000	0.77884	CAT		TCGA-2J-AABI-01A-12D-A40W-08	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	0	0	0	177	152	0	87	1	9.880682e-01	6	3	0	87	2								1	1.000000	174	149	0	86	2								-20.000000	1	1	0	0		1	0	3	3	1.673749	1	0.540000	3.450000	0.620869	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
OR11L1	391189	broad.mit.edu	37	1	248004939	248004939	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:248004939G>A	ENST00000355784.2	-	1	315	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	p.S87Y(1)		57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)		TTGGCCCCAGGACAGCAGGTT	0.572000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000355784.2	0	1	hg19	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	5.658	0.306021	0.10733	.	.	ENSG00000197591	ENST00000355784	T	0.00414	7.52	4.2	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.474733	0.15567	U	0.255629	T	0.00440	0.0014	L	0.52823	1.66	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.41893	-0.9483	10	0.56958	D	0.05	.	13.6185	0.62123	0.0:0.4233:0.5767:0.0	.	87	Q8NGX0	O11L1_HUMAN	F	87	ENSP00000348033:S87F	ENSP00000348033:S87F	S	-	2	0	OR11L1	246071562	0.000000	0.05858	0.004000	0.12327	0.302000	0.27658	-0.204000	0.09425	1.093000	0.41377	0.543000	0.68304	TCC		TCGA-2J-AABI-01A-12D-A40W-08	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	0	0	0	64	91	0	28		0	0	0	0	28	2								1	1.000000	63	90	0	28	2								-20.000000	1	1	0	0		1	3	3	6	2.312076	1	0.540000	3.450000	0.713360	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
OR2M4	26245	broad.mit.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	p.T267M(2)		50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)		TCTAAACATACGCCAGACCAG	0.517000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000306687.1	0	1	hg19	CCDS31108.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	7.287	0.610196	0.14066	0.006582	1.16E-4	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	2.248960	0.02593	N	0.100179	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.50742	-0.8792	10	0.72032	D	0.01	.	3.4528	0.07505	0.298:0.4908:0.0:0.2112	.	267	Q96R27	OR2M4_HUMAN	M	267	ENSP00000306688:T267M	ENSP00000306688:T267M	T	+	2	0	OR2M4	246469653	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.096000	0.11059	0.238000	0.21222	-1.215000	0.01618	ACG		TCGA-2J-AABI-01A-12D-A40W-08	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	0	0	0	111	254	0	70		0	0	0	0	70	2								1	1.000000	111	254	0	70	2								-2.642100	1	1	121412	166	53	1	3	3	6	2.312076	1	0.540000	3.450000	0.713360	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ZMYND12	84217	broad.mit.edu	37	1	42914150	42914150	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:42914150C>T	ENST00000372565.3	-	3	681	c.412G>A	c.(412-414)Gag>Aag	p.E138K	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12			17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			AGGCTGGCCTCGGCCAACAGC	0.527000																								0							SO:0001583	missense			ENST00000372565.3	0	1	hg19	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983575	0.93044	.	.	ENSG00000066185	ENST00000372565	T	0.63096	-0.02	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);	0.051999	0.85682	D	0.000000	T	0.77711	0.4171	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73927	-0.3828	10	0.16896	T	0.51	-14.4689	16.5355	0.84372	0.0:1.0:0.0:0.0	.	138	Q9H0C1	ZMY12_HUMAN	K	138	ENSP00000361646:E138K	ENSP00000361646:E138K	E	-	1	0	ZMYND12	42686737	0.999000	0.42202	0.983000	0.44433	0.938000	0.57974	5.319000	0.65835	2.505000	0.84491	0.561000	0.74099	GAG		TCGA-2J-AABI-01A-12D-A40W-08	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	0	0	0	27	30	0	21		0	0	0	0	21	2								1	1.000000	27	30	0	21	2								-20.000000	1	1	121410	3	30	1	0	3	3	1.566739	1	0.540000	3.450000	0.615738	0.990000	9.900000e-01	1.000000	1.000000	0.999999	0.990000	1	0.990000	1.000000
ATRN	8455	broad.mit.edu	37	20	3562887	3562887	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:3562887C>T	ENST00000262919.5	+	16	2718	c.2650C>T	c.(2650-2652)Ccg>Tcg	p.P884S	ATRN_ENST00000446916.2_Missense_Mutation_p.P884S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin			59					ACAGTGGATGCCGTCTGAGCC	0.498000																								0							SO:0001583	missense			ENST00000262919.5	0	1	hg19	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868766	0.91587	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.56444	0.46;0.46	5.37	5.37	0.77165	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.109437	0.64402	D	0.000005	T	0.66096	0.2755	L	0.60067	1.865	0.80722	D	1	D;D	0.63046	0.983;0.992	P;P	0.58454	0.839;0.755	T	0.64058	-0.6496	10	0.38643	T	0.18	-4.6819	18.7331	0.91742	0.0:1.0:0.0:0.0	.	884;884	O75882;O75882-2	ATRN_HUMAN;.	S	884;884;810	ENSP00000262919:P884S;ENSP00000416587:P884S	ENSP00000262919:P884S	P	+	1	0	ATRN	3510887	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.763000	0.85283	2.504000	0.84457	0.650000	0.86243	CCG		TCGA-2J-AABI-01A-12D-A40W-08	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	0	0	0	5	433	0	78	0	2.294396e-01	0	66	0	78	2								1	0.935199	5	426	0	76	2								-1.934915	0	1	0	0		1	3	3	6	2.305998	1	0.540000	3.450000	0.713360	0.080000	1.000000e-02	1.000000	0.080000	0.299645	0.080000	0	0.040000	1.000000
PPP1R3D	5509	broad.mit.edu	37	20	58514231	58514231	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:58514231G>A	ENST00000370996.3	-	1	1121	c.756C>T	c.(754-756)cgC>cgT	p.R252R	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D			13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		CGAAGTGCACGCGGGAGCCGA	0.677000																								0							SO:0001819	synonymous_variant			ENST00000370996.3	0	1	hg19	CCDS13483.1																																																																																				TCGA-2J-AABI-01A-12D-A40W-08	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	0	0	0	74	142	0	36	1	9.982694e-01	10	12	0	36	2								1	1.000000	67	128	0	35	2								-20.000000	1	1	121380	1	31	1	3	3	6	2.305998	1	0.540000	3.450000	0.713360	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MYO18B	84700	broad.mit.edu	37	22	26423013	26423013	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:26423013G>T	ENST00000407587.2	+	43	7245	c.7076G>T	c.(7075-7077)aGa>aTa	p.R2359I	MYO18B_ENST00000335473.7_Missense_Mutation_p.R2358I|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2358I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB			146					TTAGAATCCAGACCGAGCATG	0.567000																								0							SO:0001583	missense			ENST00000407587.2	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.108|4.108	0.018192|0.018192	0.07959|0.07959	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86030	.|-2.04;-2.04;-2.06	4.41|4.41	1.81|1.81	0.25067|0.25067	.|.	.|0.581064	.|0.14856	.|N	.|0.294341	T|T	0.68183|0.68183	0.2973|0.2973	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.23442	.|0.05;0.051;0.051;0.085;0.085	.|B;B;B;B;B	.|0.21917	.|0.023;0.016;0.016;0.037;0.037	T|T	0.60464|0.60464	-0.7258|-0.7258	5|10	.|0.56958	.|D	.|0.05	.|.	6.6697|6.6697	0.23062|0.23062	0.1122:0.3446:0.5432:0.0|0.1122:0.3446:0.5432:0.0	.|.	.|1871;2360;2358;2359;2358	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	Y|I	308|2358;2358;2359	.|ENSP00000441229:R2358I;ENSP00000334563:R2358I;ENSP00000386096:R2359I	.|ENSP00000334563:R2358I	D|R	+|+	1|2	0|0	MYO18B|MYO18B	24753013|24753013	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.068000|0.068000	0.16541|0.16541	1.258000|1.258000	0.32944|0.32944	0.816000|0.816000	0.34421|0.34421	-0.502000|-0.502000	0.04539|0.04539	GAC|AGA		TCGA-2J-AABI-01A-12D-A40W-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	0	0	164	164	0	79		0	0	0	0	79	2								1	1.000000	161	161	0	77	2								-20.000000	1	1	0	0		1	0	3	3	1.569244	1	0.540000	3.450000	0.613120	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TTN	7273	broad.mit.edu	37	2	179588862	179588862	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:179588862C>G	ENST00000591111.1	-	71	20397	c.20173G>C	c.(20173-20175)Gtt>Ctt	p.V6725L	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V5798L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V7042L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GAGGGAGGAACTGCTCGGTCT	0.408000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.09	1.833165	0.32421	.	.	ENSG00000155657	ENST00000342992	T	0.40225	1.04	6.02	5.14	0.70334	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39937	0.1097	M	0.72118	2.19	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44221	-0.9342	9	0.87932	D	0	.	5.5952	0.17323	0.0:0.655:0.1794:0.1656	.	6725	Q8WZ42	TITIN_HUMAN	L	5798	ENSP00000343764:V5798L	ENSP00000343764:V5798L	V	-	1	0	TTN	179297107	0.999000	0.42202	0.998000	0.56505	0.883000	0.51084	3.663000	0.54518	1.538000	0.49270	0.655000	0.94253	GTT		TCGA-2J-AABI-01A-12D-A40W-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	5	143	0	24		0	0	0	0	24	2								1	0.937515	5	142	0	24	2								-7.820033	1	1	0	0		1	2	2	4	1.952283	0	0.540000	3.450000	0.662212	0.210000	7.000000e-02	1.000000	0.170000	0.371484	0.210000	0	0.120000	1.000000
PSMD1	5707	broad.mit.edu	37	2	231936963	231936963	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:231936963G>A	ENST00000308696.6	+	7	877	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	PSMD1_ENST00000373635.4_Missense_Mutation_p.E239K|PSMD1_ENST00000409643.1_Missense_Mutation_p.E239K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1			31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Bortezomib(DB00188)	ACTGGTAAAGGAAGACAACCT	0.348000																								0							SO:0001583	missense			ENST00000308696.6	0	1	hg19	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910516	0.33721	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.98	5.98	0.97165	Armadillo-type fold (1);	0.042539	0.85682	D	0.000000	T	0.44685	0.1305	L	0.28504	0.86	0.80722	D	1	B;P	0.34462	0.002;0.454	B;B	0.30572	0.004;0.117	T	0.41875	-0.9484	9	0.06365	T	0.9	-21.3045	20.4581	0.99154	0.0:0.0:1.0:0.0	.	239;239	Q99460;Q99460-2	PSMD1_HUMAN;.	K	239	.	ENSP00000309474:E239K	E	+	1	0	PSMD1	231645207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	GAA		TCGA-2J-AABI-01A-12D-A40W-08	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	0	0	0	33	596	0	113	1	8.880106e-01	3	68	0	113	2								1	1.000000	33	587	0	112	2								-5.727164	1	1	0	0		1	2	2	4	2.118137	1	0.540000	3.450000	0.688178	0.290000	1.900000e-01	1.000000	0.300000	0.362415	0.290000	0	0.240000	0.370000
AGAP1	116987	broad.mit.edu	37	2	236649676	236649676	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:236649676G>C	ENST00000304032.8	+	4	960	c.380G>C	c.(379-381)gGc>gCc	p.G127A	AGAP1_ENST00000336665.5_Missense_Mutation_p.G127A|AGAP1_ENST00000409538.1_Missense_Mutation_p.G392A|AGAP1_ENST00000409457.1_Missense_Mutation_p.G127A	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	p.G127A(1)		41					GATGAAGGGGGCCCCCCGGAG	0.488000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000304032.8	0	1	hg19	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506957	0.85282	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.8	4.8	0.61643	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	H	0.97783	4.075	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.85130	0.919;0.997	D	0.88806	0.3288	10	0.72032	D	0.01	.	18.2419	0.89970	0.0:0.0:1.0:0.0	.	127;127	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	A	127;127;127;74;392	ENSP00000387174:G127A;ENSP00000307634:G127A;ENSP00000338378:G127A;ENSP00000385492:G74A;ENSP00000386897:G392A	ENSP00000307634:G127A	G	+	2	0	AGAP1	236314415	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.687000	0.98667	2.357000	0.79964	0.561000	0.74099	GGC		TCGA-2J-AABI-01A-12D-A40W-08	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	0	0	0	76	162	0	45	1	9.999985e-01	15	32	0	45	2								1	1.000000	75	160	0	42	2								-7.706843	1	0	121412	1	31	1	2	2	4	2.118137	1	0.540000	3.450000	0.688178	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
CLEC4F	165530	broad.mit.edu	37	2	71043807	71043807	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:71043807C>T	ENST00000272367.2	-	4	782	c.706G>A	c.(706-708)Gca>Aca	p.A236T	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A236T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F			37					TGGGTATTTGCCGTTTCCAAA	0.423000													Colon(107;10 2157 6841 26035)											0							SO:0001583	missense			ENST00000272367.2	0	1	hg19	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274653	0.23307	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.52526	0.66;0.66	3.4	1.51	0.23008	.	0.248657	0.20973	N	0.082344	T	0.37128	0.0992	L	0.56769	1.78	0.09310	N	1	B;B	0.27997	0.197;0.197	B;B	0.25759	0.063;0.063	T	0.31613	-0.9937	10	0.54805	T	0.06	.	4.0505	0.09793	0.2302:0.6437:0.0:0.126	.	236;236	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	T	236	ENSP00000272367:A236T;ENSP00000390581:A236T	ENSP00000272367:A236T	A	-	1	0	CLEC4F	70897315	0.001000	0.12720	0.001000	0.08648	0.040000	0.13550	1.046000	0.30354	0.403000	0.25479	0.313000	0.20887	GCA		TCGA-2J-AABI-01A-12D-A40W-08	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	0	0	0	5	470	0	88		0	0	0	0	88	2								1	0.937154	5	468	0	87	2								-2.409749	0	1	0	0		1	2	2	4	2.262592	1	0.540000	3.450000	0.701299	0.060000	0	0.140000	0.080000	0.070402	0.060000	0	0.030000	0.100000
MYLK	4638	broad.mit.edu	37	3	123385147	123385147	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:123385147G>A	ENST00000475616.1	-	19	3749	c.3750C>T	c.(3748-3750)cgC>cgT	p.R1250R	MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_Silent_p.R50R|MYLK_ENST00000360772.3_Silent_p.R1250R|MYLK_ENST00000359169.1_Silent_p.R1250R|MYLK_ENST00000346322.5_Silent_p.R1181R|MYLK_ENST00000360304.3_Silent_p.R1250R			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			ACTCTCCTGCGCGTACCTTCT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000475616.1	0	1	hg19	CCDS46896.1																																																																																				TCGA-2J-AABI-01A-12D-A40W-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	0	0	92	164	0	42	0	9.999993e-01	1	41	0	42	2								1	1.000000	92	165	0	42	2								-20.000000	1	1	121412	29	45	1	2	2	4	2.210435	1	0.540000	3.450000	0.701299	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SIAH2	6478	broad.mit.edu	37	3	150460358	150460358	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:150460358T>C	ENST00000312960.3	-	2	1072	c.545A>G	c.(544-546)gAa>gGa	p.E182G		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2			16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		CATCACAGCTTCCAGGGACCC	0.527000																								0							SO:0001583	missense			ENST00000312960.3	0	1	hg19	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.009834	0.93346	.	.	ENSG00000181788	ENST00000312960;ENST00000482706	T;T	0.26373	1.74;1.74	5.54	5.54	0.83059	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.56769	1.78	0.80722	D	1	B	0.15473	0.013	B	0.22152	0.038	T	0.03875	-1.0996	10	0.30854	T	0.27	.	15.6746	0.77307	0.0:0.0:0.0:1.0	.	182	O43255	SIAH2_HUMAN	G	182;56	ENSP00000322457:E182G;ENSP00000417619:E56G	ENSP00000322457:E182G	E	-	2	0	SIAH2	151943048	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.024000	0.88770	2.094000	0.63399	0.402000	0.26972	GAA		TCGA-2J-AABI-01A-12D-A40W-08	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	0	0	0	161	257	0	66	1	1	43	86	0	66	2								1	1.000000	159	254	0	66	2								-20.000000	1	1	0	0		1	2	2	4	2.231917	1	0.540000	3.450000	0.701299	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SI	6476	broad.mit.edu	37	3	164709985	164709985	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:164709985G>A	ENST00000264382.3	-	43	5025	c.4963C>T	c.(4963-4965)Cgg>Tgg	p.R1655W		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)			218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)		Acarbose(DB00284)|Scopolamine(DB00747)	TCAAACCACCGAGCATTGGGG	0.343000										HNSCC(35;0.089)														0							SO:0001583	missense			ENST00000264382.3	0	1	hg19	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579614	0.86645	.	.	ENSG00000090402	ENST00000264382	D	0.91792	-2.91	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.93588	0.7953	M	0.85041	2.73	0.58432	D	0.999998	D	0.55800	0.973	P	0.46362	0.514	D	0.94785	0.7957	10	0.87932	D	0	.	16.0285	0.80560	0.0:0.0:1.0:0.0	.	1655	P14410	SUIS_HUMAN	W	1655	ENSP00000264382:R1655W	ENSP00000264382:R1655W	R	-	1	2	SI	166192679	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.905000	0.69893	2.609000	0.88269	0.655000	0.94253	CGG		TCGA-2J-AABI-01A-12D-A40W-08	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	0	0	0	284	590	0	215		0	0	0	0	215	2								1	1.000000	282	577	0	214	2								-20.000000	1	1	121412	1	35	1	2	2	4	2.231917	1	0.540000	3.450000	0.701299	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TTC21A	199223	broad.mit.edu	37	3	39175709	39175709	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:39175709G>A	ENST00000431162.2	+	21	2907	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	TTC21A_ENST00000440121.1_Splice_Site_p.V877M|TTC21A_ENST00000301819.6_Splice_Site_p.V926M|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A			50					CTTGTCCCAGGTGATGCTGGA	0.547000																								0							SO:0001630	splice_region_variant			ENST00000431162.2	0	1	hg19	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689557	0.68271	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.38887	1.11;1.11;1.11	4.52	4.52	0.55395	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.56097	D	0.000031	T	0.60235	0.2253	M	0.63428	1.95	0.80722	D	1	P;D;D;D	0.76494	0.911;0.995;0.999;0.998	P;P;D;D	0.69479	0.709;0.834;0.964;0.921	T	0.60515	-0.7248	9	.	.	.	-22.5503	16.1729	0.81831	0.0:0.0:1.0:0.0	.	46;877;926;925	B4DSJ5;Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;.;TT21A_HUMAN	M	926;908;925;877	ENSP00000301819:V926M;ENSP00000398211:V925M;ENSP00000410882:V877M	.	V	+	1	0	TTC21A	39150713	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.580000	0.60942	2.337000	0.79520	0.462000	0.41574	GTG		TCGA-2J-AABI-01A-12D-A40W-08	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	0	0	0	398	373	0	205	1	5.242164e-01	2	1	0	205	2								1	1.000000	393	364	0	204	2								-20.000000	1	1	0	0		1	0	2	2	1.464813	1	0.540000	3.450000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	p.V403M(1)		51		Hepatocellular(203;0.217)			ATTCTGGTCACGGTGTACATA	0.498000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000304883.2	0	1	hg19	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491957	0.64074	.	.	ENSG00000169836	ENST00000304883	T	0.65732	-0.17	5.81	5.81	0.92471	.	0.070759	0.64402	D	0.000020	T	0.64427	0.2597	M	0.75447	2.3	0.46061	D	0.998848	D	0.53462	0.96	B	0.39465	0.3	T	0.71052	-0.4704	10	0.54805	T	0.06	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	403	P29371	NK3R_HUMAN	M	403	ENSP00000303325:V403M	ENSP00000303325:V403M	V	-	1	0	TACR3	104730479	0.958000	0.32768	0.981000	0.43875	0.972000	0.66771	1.867000	0.39499	2.746000	0.94184	0.591000	0.81541	GTG		TCGA-2J-AABI-01A-12D-A40W-08	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	0	0	0	268	564	0	136		0	0	0	0	136	2								1	1.000000	265	558	0	135	2								-20.000000	1	1	121412	3	39	1	2	2	4	2.182862	1	0.540000	3.450000	0.697050	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
WDR17	116966	broad.mit.edu	37	4	177052717	177052717	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:177052717C>G	ENST00000280190.4	+	8	1154	c.998C>G	c.(997-999)tCt>tGt	p.S333C	WDR17_ENST00000507824.2_Missense_Mutation_p.S316C|WDR17_ENST00000393643.2_Missense_Mutation_p.S309C|WDR17_ENST00000508596.1_Missense_Mutation_p.S309C			Q8IZU2	WDR17_HUMAN	WD repeat domain 17			92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)			TCAGTCCAATCTCCAACCAAA	0.348000																								0							SO:0001583	missense			ENST00000280190.4	0	1	hg19	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.03|18.03	3.532927|3.532927	0.64972|0.64972	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.60171	.|0.25;0.27;0.21	5.44|5.44	4.57|4.57	0.56435|0.56435	.|WD40 repeat-like-containing domain (1);	.|0.115294	.|0.64402	.|N	.|0.000010	T|T	0.55545|0.55545	0.1927|0.1927	N|N	0.19112|0.19112	0.55|0.55	0.54753|0.54753	D|D	0.999984|0.999984	.|D;D	.|0.63046	.|0.992;0.992	.|P;P	.|0.55999	.|0.789;0.789	T|T	0.61143|0.61143	-0.7122|-0.7122	5|10	.|0.72032	.|D	.|0.01	-12.1229|-12.1229	12.5665|12.5665	0.56312|0.56312	0.1316:0.7416:0.1267:0.0|0.1316:0.7416:0.1267:0.0	.|.	.|309;333	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	V|C	82|309;309;333;316	.|ENSP00000422763:S309C;ENSP00000377258:S309C;ENSP00000280190:S333C	.|ENSP00000280190:S333C	L|S	+|+	1|2	0|0	WDR17|WDR17	177289711|177289711	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.830000|0.830000	0.47004|0.47004	2.389000|2.389000	0.44407|0.44407	1.375000|1.375000	0.46248|0.46248	0.650000|0.650000	0.86243|0.86243	CTC|TCT		TCGA-2J-AABI-01A-12D-A40W-08	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2	0	0	0	159	292	0	82	1	1.252541e-01	2	0	0	82	2								1	1.000000	157	291	0	81	2								-20.000000	1	1	0	0		1	2	2	4	2.182862	1	0.540000	3.450000	0.697050	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
KCNN2	3781	broad.mit.edu	37	5	113699700	113699700	+	Splice_Site	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:113699700T>C	ENST00000512097.3	+	3	1600		c.e3+2		KCNN2_ENST00000507750.1_Splice_Site|KCNN2_ENST00000264773.3_Splice_Site			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2			45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		Miconazole(DB01110)|Procaine(DB00721)	GAAATACAGGTAACTTAGGTC	0.493000																								0							SO:0001630	splice_region_variant			ENST00000512097.3	0	1	hg19	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	T	31	5.090072	0.94149	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8893	0.79279	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNN2	113727599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.522000	0.81844	2.243000	0.73865	0.533000	0.62120	.		TCGA-2J-AABI-01A-12D-A40W-08	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	0	0	0	136	203	0	55		0	0	0	0	55	2								1	1.000000	135	199	0	55	2								-20.000000	1	1	0	0		1	2	2	4	2.240475	1	0.540000	3.450000	0.701299	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PCDHA6	56142	broad.mit.edu	37	5	140209874	140209874	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:140209874C>T	ENST00000529310.1	+	1	2312	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	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)		GGCGCGTGCACGGCGGACAAG	0.692000																								0							SO:0001583	missense			ENST00000529310.1	0	1	hg19	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	6.587	0.476729	0.12521	.	.	ENSG00000081842	ENST00000529310	T	0.12039	2.72	4.12	-3.39	0.04868	.	0.708972	0.11240	U	0.584704	T	0.07818	0.0196	L	0.36672	1.1	0.09310	N	0.999999	B;P	0.38395	0.285;0.629	B;B	0.33890	0.128;0.172	T	0.15780	-1.0425	10	0.46703	T	0.11	.	4.197	0.10448	0.1561:0.394:0.3432:0.1068	.	733;733	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	M	733	ENSP00000433378:T733M	ENSP00000433378:T733M	T	+	2	0	PCDHA6	140190058	0.733000	0.28132	0.002000	0.10522	0.004000	0.04260	0.878000	0.28126	-0.870000	0.04047	0.306000	0.20318	ACG		TCGA-2J-AABI-01A-12D-A40W-08	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	0	0	0	109	208	0	73		0	0	0	0	73	2								1	1.000000	107	206	0	73	2								-12.183100	1	1	0	0		1	2	2	4	2.240475	1	0.540000	3.450000	0.701299	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PCDHA12	56137	broad.mit.edu	37	5	140257253	140257253	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:140257253C>T	ENST00000398631.2	+	1	2196	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGAGCCGGTGCGCGCCGGGCA	0.677000													Pancreas(113;759 1672 13322 24104 50104)											0							SO:0001819	synonymous_variant			ENST00000398631.2	0	1	hg19	CCDS47285.1																																																																																				TCGA-2J-AABI-01A-12D-A40W-08	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	0	0	0	75	129	0	40		0	0	0	0	40	2								1	1.000000	73	128	0	40	2								-20.000000	1	1	0	0		1	2	2	4	2.240475	1	0.540000	3.450000	0.701299	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
COL1A2	1278	broad.mit.edu	37	7	94040236	94040236	+	Silent	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:94040236T>C	ENST00000297268.6	+	22	1704	c.1233T>C	c.(1231-1233)gaT>gaC	p.D411D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2		COL1A2/PLAG1(3)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)	Collagenase(DB00048)	CTGGAGCTGATGGCAGAGCTG	0.463000										HNSCC(75;0.22)														0							SO:0001819	synonymous_variant			ENST00000297268.6	0	1	hg19	CCDS34682.1																																																																																				TCGA-2J-AABI-01A-12D-A40W-08	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	0	0	0	143	288	0	69	0	1	1	3072	0	69	2								1	1.000000	140	285	0	68	2								-20.000000	1	1	0	0		1	3	3	6	2.291612	1	0.540000	3.450000	0.711418	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
CACNA1B	774	broad.mit.edu	37	9	141015982	141015982	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:141015982G>A	ENST00000371372.1	+	47	6696	c.6551G>A	c.(6550-6552)cGc>cAc	p.R2184H	CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R1378H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2185H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2182H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2183H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCCCCGGCCGCGGTGGGCGG	0.612000																								0							SO:0001583	missense			ENST00000371372.1	0	1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484890	0.63962	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.99005	-5.0;-5.32;-5.02;-5.01;-4.99	5.0	5.0	0.66597	.	0.199712	0.44688	D	0.000428	D	0.99242	0.9736	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99624	1.0984	10	0.87932	D	0	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	2183;2182	B1AQK7;B1AQK6	.;.	H	2184;1378;2182;2183;2185	ENSP00000360423:R2184H;ENSP00000277549:R1378H;ENSP00000360414:R2182H;ENSP00000360408:R2183H;ENSP00000360406:R2185H	ENSP00000277549:R1378H	R	+	2	0	CACNA1B	140135803	1.000000	0.71417	0.930000	0.37139	0.248000	0.25809	9.166000	0.94766	2.319000	0.78375	0.561000	0.74099	CGC		TCGA-2J-AABI-01A-12D-A40W-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	0	0	0	46	106	0	12		0	0	0	0	12	2								1	1.000000	45	102	0	12	2								-20.000000	1	1	120766	4	35	1	3	3	6	2.402753	1	0.540000	3.450000	0.724485	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
NOX1	27035	broad.mit.edu	37	X	100118509	100118509	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:100118509G>A	ENST00000372966.3	-	3	422	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	NOX1_ENST00000372964.1_Missense_Mutation_p.R73C|NOX1_ENST00000217885.5_Missense_Mutation_p.R73C|NOX1_ENST00000372960.4_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1			7					AGCAGATTGCGACACACAGGA	0.517000																								0							SO:0001583	missense			ENST00000372966.3	0	1	hg19	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422237	0.25639	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885	D;D;D	0.99803	-4.9;-6.82;-5.03	3.91	0.862	0.19056	Flavoprotein transmembrane component (1);	0.136302	0.47852	D	0.000201	D	0.99771	0.9906	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98834	1.0752	10	0.87932	D	0	-0.0256	5.4438	0.16523	0.2038:0.0:0.6362:0.16	.	73;73	Q9Y5S8-3;Q9Y5S8	.;NOX1_HUMAN	C	73	ENSP00000362057:R73C;ENSP00000362055:R73C;ENSP00000217885:R73C	ENSP00000217885:R73C	R	-	1	0	NOX1	100005165	1.000000	0.71417	0.411000	0.26484	0.070000	0.16714	2.963000	0.49184	0.289000	0.22422	0.594000	0.82650	CGC		TCGA-2J-AABI-01A-12D-A40W-08	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	0	0	0	69	152	0	39	0	0	0	1	0	39	2								1	1.000000	69	150	0	39	2								-20.000000	1	1	0	0		1	0	1	1			0.540000	3.450000	0.540000	0.990000	9.300000e-01	1.000000	1.000000	0.996063	0.990000	1	0.990000	1.000000
MCF2	4168	broad.mit.edu	37	X	138701810	138701810	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:138701810G>C	ENST00000370576.4	-	7	952	c.743C>G	c.(742-744)aCa>aGa	p.T248R	MCF2_ENST00000370573.4_Missense_Mutation_p.T248R|MCF2_ENST00000414978.1_Missense_Mutation_p.T308R|MCF2_ENST00000338585.6_Missense_Mutation_p.T248R|MCF2_ENST00000519895.1_Missense_Mutation_p.T308R|MCF2_ENST00000536274.1_Missense_Mutation_p.T209R|MCF2_ENST00000370578.4_Missense_Mutation_p.T393R|MCF2_ENST00000520602.1_Missense_Mutation_p.T308R	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence			62	Acute lymphoblastic leukemia(192;0.000127)				TATAGTCCCTGTTACATCAGC	0.284000																								0							SO:0001583	missense			ENST00000370576.4	0	1	hg19	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419335	0.62622	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.2	4.28	0.50868	.	0.268520	0.41194	D	0.000929	T	0.45538	0.1347	L	0.44542	1.39	0.28183	N	0.928068	B;P;B;B;B;B;P;B	0.43578	0.06;0.713;0.1;0.06;0.391;0.06;0.811;0.271	B;P;B;B;B;B;P;B	0.51385	0.171;0.467;0.32;0.171;0.32;0.171;0.668;0.171	T	0.40683	-0.9550	10	0.66056	D	0.02	.	10.2406	0.43310	0.0:0.3351:0.6649:0.0	.	308;393;209;248;248;393;248;248	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	R	308;248;209;393;308;308;248;248	ENSP00000427745:T308R;ENSP00000359608:T248R;ENSP00000438155:T209R;ENSP00000359610:T393R;ENSP00000397055:T308R;ENSP00000430276:T308R;ENSP00000359605:T248R;ENSP00000342204:T248R	ENSP00000342204:T248R	T	-	2	0	MCF2	138529476	0.999000	0.42202	0.669000	0.29828	0.947000	0.59692	2.673000	0.46858	2.309000	0.77851	0.600000	0.82982	ACA		TCGA-2J-AABI-01A-12D-A40W-08	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	0	0	0	99	258	0	72		0	0	0	0	72	2								1	1.000000	97	254	0	71	2								-20.000000	1	1	121138	1	23	1	0	1	1			0.540000	3.450000	0.540000	0.990000	8.500000e-01	1.000000	1.000000	0.977913	0.990000	1	0.930000	1.000000
MAGEA12	4111	broad.mit.edu	37	X	151900345	151900345	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:151900345G>A	ENST00000357916.4	-	2	611	c.456C>T	c.(454-456)agC>agT	p.S152S	CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393900.3_Silent_p.S152S|CSAG1_ENST00000370291.2_5'Flank|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.S152S|CSAG1_ENST00000452779.2_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12			28	Acute lymphoblastic leukemia(192;6.56e-05)				CGGAGGCTTTGCTGAAGATCA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000357916.4	0	1	hg19	CCDS14710.1																																																																																				TCGA-2J-AABI-01A-12D-A40W-08	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	0	0	0	359	639	0	252		0	0	0	0	252	2								1	1.000000	356	631	0	249	2								-20.000000	1	1	0	0		1	0	1	1			0.540000	3.450000	0.540000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MAGEB2	4113	broad.mit.edu	37	X	30236744	30236744	+	Missense_Mutation	SNP	G	G	A	rs151181148	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:30236744G>A	ENST00000378988.4	+	2	148	c.47G>A	c.(46-48)cGc>cAc	p.R16H		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2			23					GAGAAACGCCGCAAGGCCCGA	0.542000																								0							SO:0001583	missense			ENST00000378988.4	0	1	hg19	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770406	0.15983	.	.	ENSG00000099399	ENST00000378988	T	0.04862	3.54	3.43	-3.36	0.04913	Melanoma associated antigen, MAGE, N-terminal (1);	0.346074	0.24848	N	0.035101	T	0.03136	0.0092	L	0.28344	0.845	0.09310	N	1	P	0.35307	0.494	B	0.29077	0.098	T	0.45877	-0.9231	10	0.11794	T	0.64	.	10.3334	0.43835	0.7538:0.0:0.2462:0.0	.	16	O15479	MAGB2_HUMAN	H	16	ENSP00000368273:R16H	ENSP00000368273:R16H	R	+	2	0	MAGEB2	30146665	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.865000	0.04250	-1.207000	0.02637	-1.144000	0.01866	CGC		TCGA-2J-AABI-01A-12D-A40W-08	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	0	0	0	4	165	0	36	0	5.795473e-03	0	4	0	36	2								1	0.887083	4	162	0	34	2								-3.112261	1	1	121406	52	47	1	0	1	1			0.540000	3.450000	0.540000	0.090000	2.000000e-02	0.210000	0.090000	0.107725	0.090000	0	0.050000	0.150000