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
SMAD4	4089	broad.mit.edu	37	18	48591861	48591861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr18:48591861delC	ENST00000342988.3	+	9	1562	c.1024delC	c.(1024-1026)cctfs	p.P342fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.P246fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P342fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.F339_S343del(2)|p.?(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			ATTTAAGGTTCCTTCAAGCTG	0.443000																								40	Whole gene deletion(36)|Deletion - In frame(2)|Unknown(2)						SO:0001589	frameshift_variant			ENST00000342988.3	1	1	hg19	CCDS11950.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	88	441	0	99	0	9.762759e-01	1	31	0	99	2	1	1	135	743	0	886	2	1	1.000000	99	438	0	96	2								-3.154458	1	1	0	0		1	0	1	1	1.634216	1	0.380000	1.990000	0.234568	0.700000	5.700000e-01	0.840000	0.700000	0.710130	0.700000	0	0.630000	0.780000
HIST1H1B	3009	broad.mit.edu	37	6	27835072	27835074	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:27835072_27835074delTTC	ENST00000331442.3	-	1	285_287	c.234_236delGAA	c.(232-237)aagaat>aat	p.K78del		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b			24					GCGGCTGTTATTCTTCTCCACGT	0.557000																								0							SO:0001651	inframe_deletion			ENST00000331442.3	1	1	hg19	CCDS4635.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	1	0	0	145	1008	0	172			0	0	0	172				0	0	0	0		1	1.000000	229	1035	5	169	58								-20.000000	1	0	0	0		1	0	1	1	2.002036	0	0.380000	1.990000	0.378820	0.650000	5.500000e-01	0.760000	0.660000	0.663092	0.650000	0	0.600000	0.710000
MARCH8	220972	broad.mit.edu	37	10	45954652	45954652	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr10:45954652C>T	ENST00000319836.3	-	6	1236	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.V163I|MARCH8_ENST00000453424.2_Missense_Mutation_p.V445I|MARCH8_ENST00000395771.3_Missense_Mutation_p.V163I	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase			12					ATGGCAATGACGTGGAATGTC	0.527000													NSCLC(102;658 1594 2173 16344 34808)											0							SO:0001583	missense			ENST00000319836.3	1	1	hg19	CCDS7213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.459|1.459	-0.562957|-0.562957	0.03939|0.03939	.|.	.|.	ENSG00000165406|ENSG00000165406	ENST00000453424|ENST00000395771;ENST00000319836;ENST00000395769	.|T;T;T	.|0.12774	.|2.65;2.65;2.65	5.9|5.9	-0.201|-0.201	0.13212|0.13212	.|.	.|0.420336	.|0.27932	.|N	.|0.017271	T|T	0.07593|0.07593	0.0191|0.0191	N|N	0.16790|0.16790	0.44|0.44	0.25795|0.25795	N|N	0.984575|0.984575	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.08055	.|0.003;0.001	T|T	0.32402|0.32402	-0.9908|-0.9908	5|10	.|0.25751	.|T	.|0.34	-18.5993|-18.5993	11.5774|11.5774	0.50869|0.50869	0.0:0.5925:0.0:0.4075|0.0:0.5925:0.0:0.4075	.|.	.|163;327	.|Q5T0T0;Q5JQ16	.|MARH8_HUMAN;.	H|I	327|163	.|ENSP00000379118:V163I;ENSP00000317087:V163I;ENSP00000379116:V163I	.|ENSP00000317087:V163I	R|V	-|-	2|1	0|0	MARCH8|MARCH8	45274658|45274658	0.077000|0.077000	0.21312|0.21312	0.050000|0.050000	0.19076|0.19076	0.019000|0.019000	0.09904|0.09904	-0.500000|-0.500000	0.06405|0.06405	-0.280000|-0.280000	0.09154|0.09154	-1.814000|-1.814000	0.00607|0.00607	CGT|GTC		TCGA-2J-AABE-01A-12D-A40W-08	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	1	0	1	106	317	1	60	1	4.695309e-01	3	3	1	60	2		0	0	0	0	0	2	1	1.000000	105	317	1	60	22								-20.000000	1	1	121412	1	28	1	1	2	3	2.024446	0	0.380000	1.990000	0.384676	0.990000	9.900000e-01	1.000000	1.000000	0.999978	0.990000	1	0.990000	1.000000
PAH	5053	broad.mit.edu	37	12	103306580	103306580	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:103306580G>A	ENST00000553106.1	-	2	629	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.R48C	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase			27				Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCAAATAAGCGCAATACTTTG	0.383000																								0		GRCh37	CM010948	PAH	M		SO:0001583	missense			ENST00000553106.1	0	1	hg19	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455662	0.43634	.	.	ENSG00000171759	ENST00000553106;ENST00000307000;ENST00000551337;ENST00000546844	D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53	5.46	4.57	0.56435	Amino acid-binding ACT (1);	0.103551	0.64402	D	0.000008	D	0.97492	0.9179	M	0.62016	1.91	0.80722	D	1	B;B	0.25272	0.122;0.04	B;B	0.20577	0.03;0.013	D	0.96114	0.9079	10	0.87932	D	0	-18.3309	10.8105	0.46545	0.0883:0.0:0.9117:0.0	rs62650748	53;53	B4DPN2;P00439	.;PH4H_HUMAN	C	53;48;53;53	ENSP00000448059:R53C;ENSP00000303500:R48C;ENSP00000447620:R53C;ENSP00000446658:R53C	ENSP00000303500:R48C	R	-	1	0	PAH	101830710	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.568000	0.45965	2.549000	0.85964	0.655000	0.94253	CGC		TCGA-2J-AABE-01A-12D-A40W-08	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1	0	0	0	10	390	0	72	0	4.681680e-03	0	4	0	72	2		0	0	0	0	0	2	1	0.996807	10	386	0	72	2								-2.925784	1	1	121410	4	40	1	1	2	3	2.005348	0	0.380000	1.990000	0.381176	0.130000	6.000000e-02	0.240000	0.130000	0.143706	0.130000	0	0.090000	0.190000
HVCN1	84329	broad.mit.edu	37	12	111121035	111121035	+	Missense_Mutation	SNP	C	C	T	rs147424254		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:111121035C>T	ENST00000356742.5	-	2	769	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	HVCN1_ENST00000548312.1_Missense_Mutation_p.E6K|HVCN1_ENST00000439744.2_Intron|HVCN1_ENST00000242607.8_Missense_Mutation_p.E6K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1			19					ATTACCTTTTCGTCCCAGGTG	0.458000																								0							SO:0001583	missense			ENST00000356742.5	1	1	hg19	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	C	5.668	0.307807	0.10733	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000546713	T;T;T	0.42900	0.96;0.96;0.96	4.03	3.12	0.35913	.	2.162620	0.01930	N	0.041205	T	0.32224	0.0822	N	0.22421	0.69	0.19775	N	0.999958	B;B	0.31413	0.216;0.322	B;B	0.25759	0.028;0.063	T	0.26121	-1.0112	10	0.39692	T	0.17	7.908	9.5178	0.39115	0.0:0.7734:0.2266:0.0	.	6;6	Q96D96;Q96D96-3	HVCN1_HUMAN;.	K	6	ENSP00000449601:E6K;ENSP00000242607:E6K;ENSP00000349181:E6K	ENSP00000242607:E6K	E	-	1	0	HVCN1	109605418	0.033000	0.19621	0.071000	0.20095	0.013000	0.08279	1.484000	0.35508	1.244000	0.43870	0.655000	0.94253	GAA		TCGA-2J-AABE-01A-12D-A40W-08	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	1	0	1	138	612	0	108	1	9.905175e-01	4	30	0	108	2		0	0	0	0	0	2	1	1.000000	134	604	0	108	2								-20.000000	1	1	121412	10	46	1	1	2	3	2.005348	0	0.380000	1.990000	0.381176	0.960000	8.200000e-01	1.000000	1.000000	0.954276	0.960000	1	0.890000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	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	1	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-AABE-01A-12D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	28	163	0	57	1	6.350969e-01	4	10	0	57	2	1	1	24	252	0	334	2	1	1.000000	28	163	0	57	2								-15.160630	1	1	0	0		1	1	2	3	2.005348	0	0.380000	1.990000	0.381176	0.770000	5.300000e-01	1.000000	1.000000	0.781413	0.770000	0	0.640000	0.920000
KCNA5	3741	broad.mit.edu	37	12	5154148	5154148	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:5154148C>A	ENST00000252321.3	+	1	1064	c.835C>A	c.(835-837)Cgt>Agt	p.R279S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5			52				Dalfampridine(DB06637)	CAGGGATGAACGTGAGCTGCT	0.687000																								0							SO:0001583	missense			ENST00000252321.3	1	1	hg19	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249281	0.22880	.	.	ENSG00000130037	ENST00000252321	T	0.62639	0.01	4.77	3.87	0.44632	.	.	.	.	.	T	0.51126	0.1656	L	0.35793	1.09	0.19300	N	0.999971	B	0.06786	0.001	B	0.15484	0.013	T	0.45833	-0.9234	9	0.52906	T	0.07	.	9.0243	0.36220	0.2765:0.5838:0.1397:0.0	.	279	P22460	KCNA5_HUMAN	S	279	ENSP00000252321:R279S	ENSP00000252321:R279S	R	+	1	0	KCNA5	5024409	0.000000	0.05858	0.874000	0.34290	0.974000	0.67602	-0.392000	0.07314	1.226000	0.43582	0.561000	0.74099	CGT		TCGA-2J-AABE-01A-12D-A40W-08	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	1	0	0	57	320	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1.000000	56	315	0	35	2								-20.000000	1	1	0	0		1	0	0	0	1.932215	0	0.380000	1.990000	0.355509	0.760000	5.900000e-01	0.950000	0.760000	0.770744	0.760000	0	0.670000	0.860000
AHNAK2	113146	broad.mit.edu	37	14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2			33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		TTTGAAGCCGGCTCCCTCGGG	0.632000																								0							SO:0001583	missense			ENST00000333244.5	0	1	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	5.329	0.245997	0.10077	.	.	ENSG00000185567	ENST00000333244	T	0.00784	5.7	4.8	-1.57	0.08506	.	.	.	.	.	T	0.01254	0.0041	L	0.39514	1.22	0.09310	N	1	P	0.48350	0.909	P	0.60012	0.867	T	0.47249	-0.9132	9	0.13853	T	0.58	-8.5045	1.8315	0.03131	0.2507:0.4053:0.2113:0.1327	.	1735	Q8IVF2	AHNK2_HUMAN	V	1735	ENSP00000353114:A1735V	ENSP00000353114:A1735V	A	-	2	0	AHNAK2	104487629	.	.	0.000000	0.03702	0.004000	0.04260	.	.	0.090000	0.17273	0.505000	0.49811	GCC		TCGA-2J-AABE-01A-12D-A40W-08	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	0	0	7	913	0	156	0	1.152207e-02	0	18	0	156	2		0	0	0	0	0	2	1	0.978361	7	885	0	152	2								-2.112756	0	1	0	0		1	1	2	3	2.030804	0	0.380000	1.990000	0.384676	0.040000	0	1.000000	0.040000	0.073429	0.040000	0	0.020000	0.070000
SNX6	58533	broad.mit.edu	37	14	35072604	35072604	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:35072604T>C	ENST00000362031.4	-	6	532	c.502A>G	c.(502-504)Att>Gtt	p.I168V	SNX6_ENST00000396534.3_Missense_Mutation_p.I40V|SNX6_ENST00000396526.3_Missense_Mutation_p.I40V|SNX6_ENST00000355110.5_Missense_Mutation_p.I44V	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6			6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)		CTTCTCAAAATAGGATGTGCT	0.338000																								0							SO:0001583	missense			ENST00000362031.4	1	1	hg19	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.624808	0.00820	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110;ENST00000557265	T;T;T;T;T	0.37411	2.07;2.07;1.2;2.06;1.2	5.66	3.27	0.37495	Phox homologous domain (4);	0.053291	0.85682	D	0.000000	T	0.12689	0.0308	N	0.03209	-0.39	0.46185	D	0.998915	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.20438	-1.0275	10	0.02654	T	1	-14.025	8.1078	0.30896	0.1208:0.0657:0.0:0.8135	.	44;156	B4DJS7;Q9UNH7	.;SNX6_HUMAN	V	40;40;168;44;131	ENSP00000379779:I40V;ENSP00000379785:I40V;ENSP00000355217:I168V;ENSP00000347230:I44V;ENSP00000452577:I131V	ENSP00000347230:I44V	I	-	1	0	SNX6	34142355	1.000000	0.71417	0.931000	0.37212	0.094000	0.18550	3.258000	0.51507	0.490000	0.27771	-0.290000	0.09829	ATT		TCGA-2J-AABE-01A-12D-A40W-08	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3	1	0	1	40	211	0	32	1	9.997150e-01	20	48	0	32	2		0	0	0	0	0	2	1	1.000000	39	211	0	32	2								-20.000000	1	1	0	0		1	1	2	3	2.030804	0	0.380000	1.990000	0.384676	0.840000	6.200000e-01	1.000000	1.000000	0.850460	0.840000	0	0.720000	0.990000
ABCC6	368	broad.mit.edu	37	16	16248786	16248786	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:16248786G>C	ENST00000205557.7	-	28	4014	c.3985C>G	c.(3985-3987)Ccc>Gcc	p.P1329A		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6			43				Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TGGGCAATGGGGACCCCGTCG	0.677000																								0							SO:0001583	missense			ENST00000205557.7	0	1	hg19	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569435	0.45798	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90444	-2.67	4.53	0.927	0.19437	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.674572	0.12392	U	0.472885	D	0.85609	0.5736	L	0.28694	0.88	0.80722	D	1	P;P	0.49961	0.93;0.93	P;P	0.50192	0.634;0.634	T	0.80381	-0.1406	10	0.66056	D	0.02	.	2.4178	0.04440	0.0966:0.1762:0.2948:0.4325	.	1329;1329	O95255;A8Y988	MRP6_HUMAN;.	A	1329;267	ENSP00000205557:P1329A	ENSP00000205557:P1329A	P	-	1	0	ABCC6	16156287	1.000000	0.71417	0.994000	0.49952	0.687000	0.40016	1.409000	0.34680	0.323000	0.23307	0.465000	0.42564	CCC		TCGA-2J-AABE-01A-12D-A40W-08	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2	1	0	1	8	66	0	8	0	1.537936e-02	0	2	0	8	2		0	0	0	0	0	2	1	0.988986	7	64	0	8	2								-14.458880	1	1	0	0		1	1	2	3	2.060932	0	0.380000	1.990000	0.389283	0.610000	2.900000e-01	1.000000	1.000000	0.640466	0.610000	0	0.430000	0.870000
ABCC6	368	broad.mit.edu	37	16	16284080	16284080	+	Missense_Mutation	SNP	G	G	A	rs72664217		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:16284080G>A	ENST00000205557.7	-	12	1605	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6			43				Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCGGAGGTCCGCAAGGCGCCC	0.577000																								0		GRCh37	CI063637	ABCC6	I	rs72664217	SO:0001583	missense			ENST00000205557.7	0	1	hg19	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366424	0.41902	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.90004	-2.6;-2.6	4.9	1.34	0.21922	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.413118	0.19564	U	0.111280	D	0.92315	0.7562	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68483	0.929;0.958	D	0.91095	0.4910	10	0.87932	D	0	.	13.4957	0.61424	0.0:0.0:0.5684:0.4316	.	538;526	F5GWQ0;O95255	.;MRP6_HUMAN	W	526;526;538	ENSP00000205557:R526W;ENSP00000405002:R526W	ENSP00000205557:R526W	R	-	1	2	ABCC6	16191581	1.000000	0.71417	0.895000	0.35142	0.168000	0.22595	3.701000	0.54793	-0.029000	0.13827	-0.314000	0.08810	CGG		TCGA-2J-AABE-01A-12D-A40W-08	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2	0	0	0	6	386	0	67	0	3.598278e-04	0	2	0	67	2		0	0	0	0	0	2	1	0.961448	6	373	0	67	2								-2.271318	0	1	121412	3	38	1	1	2	3	2.060932	0	0.380000	1.990000	0.389283	0.080000	3.000000e-02	1.000000	0.080000	0.152807	0.080000	0	0.050000	0.140000
KRT17	3872	broad.mit.edu	37	17	39780381	39780381	+	Silent	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr17:39780381G>A	ENST00000311208.8	-	1	448	c.381C>T	c.(379-381)ccC>ccT	p.P127P	JUP_ENST00000540235.1_Intron|KRT42P_ENST00000438131.1_RNA	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17			12		Breast(137;0.000307)			AGTCACGGGCGGGCCCCGGGG	0.642000													Pancreas(92;1242 2086 39193 50508)											0							SO:0001819	synonymous_variant			ENST00000311208.8	0	1	hg19	CCDS11402.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	0	0	0	6	863	0	105	1	7.566103e-01	2	381	0	105	2		0	0	0	0	0	2	1	0.947210	4	753	0	107	2								-1.953259	0	0	121376	27	41	1	1	2	3	2.072248	0	0.380000	1.990000	0.391560	0.030000	0	1.000000	0.040000	0.120158	0.030000	0	0.010000	0.070000
RNF43	54894	broad.mit.edu	37	17	56492875	56492875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr17:56492875G>A	ENST00000584437.1	-	1	2019	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	RNF43_ENST00000583753.1_Nonsense_Mutation_p.Q22*|RNF43_ENST00000580014.1_5'Flank|RNF43_ENST00000577716.1_Nonsense_Mutation_p.Q22*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.Q22*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Nonsense_Mutation_p.Q22*|RNF43_ENST00000581868.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	p.Q22*(1)		60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				AAGCCTGCCTGCAGGGTAGCC	0.552000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000584437.1	0	1	hg19	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	42	9.321529	0.99137	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	5.69	5.69	0.88448	.	0.231655	0.31290	N	0.007907	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.897	19.1688	0.93569	0.0:0.0:1.0:0.0	.	.	.	.	X	22	.	ENSP00000385328:Q22X	Q	-	1	0	RNF43	53847874	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.758000	0.91663	2.840000	0.97914	0.655000	0.94253	CAG		TCGA-2J-AABE-01A-12D-A40W-08	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	0	48	169	0	52	1	8.154947e-01	11	2	0	52	2	1	1	76	292	0	476	2	1	1.000000	47	162	0	51	2								-20.000000	1	1	0	0		1	0	1	1	1.654203	1	0.380000	1.990000	0.236359	0.890000	7.000000e-01	1.000000	1.000000	0.887685	0.890000	1	0.790000	0.970000
ARHGAP28	79822	broad.mit.edu	37	18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr18:6859874C>T	ENST00000383472.4	+	5	808	c.704C>T	c.(703-705)gCg>gTg	p.A235V	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.A76V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28			37		Colorectal(10;0.168)			GGGAGTTTTGCGGTTCCCAGG	0.433000																								0							SO:0001583	missense			ENST00000383472.4	0	1	hg19		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	8.061	0.768218	0.15983	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08102	3.3;3.25;3.2;3.2;3.2;3.13	4.44	0.19	0.15125	.	1.318330	0.04466	N	0.375305	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.001;0.003;0.006;0.004	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.42015	-0.9476	10	0.25106	T	0.35	.	7.004	0.24826	0.0:0.5813:0.0:0.4187	.	235;67;76;183	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	235;183;76;71;76;76;67;58	ENSP00000382963:A235V;ENSP00000262227:A183V;ENSP00000392660:A76V;ENSP00000437262:A71V;ENSP00000313506:A76V;ENSP00000406907:A76V	ENSP00000262227:A183V	A	+	2	0	ARHGAP28	6849874	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	0.379000	0.20585	0.014000	0.14944	0.563000	0.77884	GCG		TCGA-2J-AABE-01A-12D-A40W-08	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	0	0	0	6	588	1	98	0	0	0	1	1	98	2		0	0	0	0	0	2	0	0.003840	6	580	1	98	20								-1.516175	0	1	121412	24	48	1	1	2	3	2.041017	0	0.380000	1.990000	0.386988	0.050000	1.000000e-02	1.000000	0.060000	0.106413	0.050000	0	0.030000	0.090000
ZNF823	55552	broad.mit.edu	37	19	11833554	11833554	+	Silent	SNP	T	T	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:11833554T>C	ENST00000341191.6	-	4	948	c.795A>G	c.(793-795)agA>agG	p.R265R	ZNF823_ENST00000545749.1_Silent_p.R83R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823			26					TTCTCTCATGTCTTAGATAGG	0.418000										HNSCC(68;0.2)														0							SO:0001819	synonymous_variant			ENST00000341191.6	1	1	hg19	CCDS45981.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	1	0	0	46	266	0	64	1	2.225771e-01	3	3	0	64	2		0	0	0	0	0	2	1	1.000000	46	262	0	64	2								-19.993030	1	1	0	0		1	1	2	3	2.029721	0	0.380000	1.990000	0.384676	0.780000	5.800000e-01	1.000000	0.780000	0.794421	0.780000	0	0.680000	0.910000
ZNF585B	92285	broad.mit.edu	37	19	37677113	37677113	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:37677113G>T	ENST00000532828.2	-	5	1577	c.1326C>A	c.(1324-1326)caC>caA	p.H442Q	ZNF585B_ENST00000531805.1_Missense_Mutation_p.H387Q|ZNF585B_ENST00000312908.5_Missense_Mutation_p.H30Q|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B			29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		ATTTCCCACAGTGACCACATT	0.393000													Melanoma(93;882 1454 18863 28917 48427)											0							SO:0001583	missense			ENST00000532828.2	1	1	hg19	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	3.430	-0.116359	0.06881	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.35236	1.32;3.2;3.2	2.35	-0.522	0.11928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.400480	0.18380	N	0.142995	T	0.08626	0.0214	N	0.01576	-0.805	0.21105	N	0.99978	B;B	0.33413	0.013;0.411	B;B	0.28011	0.034;0.085	T	0.28554	-1.0040	10	0.12430	T	0.62	.	3.4191	0.07386	0.1455:0.0:0.4286:0.4259	.	387;442	E9PQH3;Q52M93	.;Z585B_HUMAN	Q	387;442;30	ENSP00000436774:H387Q;ENSP00000433773:H442Q;ENSP00000442139:H30Q	ENSP00000442139:H30Q	H	-	3	2	ZNF585B	42368953	0.000000	0.05858	0.809000	0.32408	0.714000	0.41099	-5.979000	0.00087	-0.158000	0.11040	0.305000	0.20034	CAC		TCGA-2J-AABE-01A-12D-A40W-08	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	0	0	0	105	548	0	136	0	2.631603e-02	1	1	0	136	2		0	0	0	0	0	2	1	1.000000	105	543	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.029721	0	0.380000	1.990000	0.384676	0.850000	7.000000e-01	1.000000	0.850000	0.859180	0.850000	1	0.770000	0.940000
LRFN1	57622	broad.mit.edu	37	19	39805357	39805357	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:39805357A>T	ENST00000248668.4	-	1	619	c.620T>A	c.(619-621)gTg>gAg	p.V207E	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1			18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		GTGAAGCTGCACGAAGGTCCC	0.647000																								0							SO:0001583	missense			ENST00000248668.4	1	1	hg19	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596320	0.46318	.	.	ENSG00000128011	ENST00000248668	T	0.55760	0.5	4.62	3.61	0.41365	.	0.000000	0.38720	N	0.001584	T	0.26376	0.0644	N	0.01257	-0.925	0.34603	D	0.716756	P	0.39060	0.657	P	0.45232	0.474	T	0.31280	-0.9949	10	0.33141	T	0.24	.	5.8513	0.18694	0.7936:0.0:0.2064:0.0	.	207	Q9P244	LRFN1_HUMAN	E	207	ENSP00000248668:V207E	ENSP00000248668:V207E	V	-	2	0	LRFN1	44497197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.225000	0.72271	0.810000	0.34279	0.454000	0.30748	GTG		TCGA-2J-AABE-01A-12D-A40W-08	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	1	0	1	27	73	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	1.000000	27	72	0	19	2								-20.000000	1	1	0	0		1	1	2	3	2.029721	0	0.380000	1.990000	0.384676	0.990000	9.900000e-01	1.000000	1.000000	0.998431	0.990000	1	0.990000	1.000000
PRX	57716	broad.mit.edu	37	19	40901352	40901352	+	Silent	SNP	A	A	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:40901352A>G	ENST00000324001.7	-	7	3177	c.2907T>C	c.(2905-2907)gcT>gcC	p.A969A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin			47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		CCCCCACCCGAGCCTTGGGGA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000324001.7	1	1	hg19	CCDS33028.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	1	0	0	22	450	0	50	0	8.346818e-02	0	10	0	50	2		0	0	0	0	0	2	1	0.999998	22	434	0	48	2								-19.998100	1	1	0	0		1	1	2	3	2.043321	0	0.380000	1.990000	0.386988	0.250000	1.500000e-01	1.000000	0.250000	0.292309	0.250000	0	0.200000	0.320000
SCAF1	58506	broad.mit.edu	37	19	50154632	50154632	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:50154632C>T	ENST00000360565.3	+	7	1110	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1			20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)			CCCACACAGCCGACTCCCGCC	0.701000																								0							SO:0001583	missense			ENST00000360565.3	1	1	hg19	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266252	0.23136	.	.	ENSG00000126461	ENST00000360565	T	0.29655	1.56	4.47	2.21	0.28008	.	0.601209	0.13812	N	0.361016	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.19063	-1.0317	9	.	.	.	-5.2311	6.3384	0.21309	0.185:0.7119:0.0:0.1031	.	329	Q9H7N4	SFR19_HUMAN	L	329	ENSP00000353769:P329L	.	P	+	2	0	SCAF1	54846444	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.543000	0.23237	2.187000	0.69744	0.591000	0.81541	CCG		TCGA-2J-AABE-01A-12D-A40W-08	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	1	0	0	28	91	0	19	1	9.999995e-01	26	60	0	19	2		0	0	0	0	0	2	1	1.000000	25	88	0	18	2								-4.039193	1	1	120792	1	23	1	1	2	3	2.038292	0	0.380000	1.990000	0.385835	0.990000	8.800000e-01	1.000000	1.000000	0.992223	0.990000	1	0.990000	1.000000
NLRP8	126205	broad.mit.edu	37	19	56477724	56477724	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:56477724C>T	ENST00000291971.3	+	5	2430	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	NLRP8_ENST00000590542.1_Missense_Mutation_p.R787W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8			35		Colorectal(82;0.000147)|Ovarian(87;0.17)			GAGATCCCCCCGGTGCCGTCT	0.542000																								0							SO:0001583	missense			ENST00000291971.3	1	1	hg19	CCDS12937.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.834	0.523138	0.13066	.	.	ENSG00000179709	ENST00000291971	T	0.54071	0.59	1.82	0.759	0.18438	.	.	.	.	.	T	0.37293	0.0998	L	0.39898	1.24	0.09310	N	1	B;B	0.27140	0.031;0.169	B;B	0.18871	0.022;0.023	T	0.28933	-1.0028	9	0.56958	D	0.05	.	4.3325	0.11071	0.0:0.7918:0.0:0.2082	.	787;787	Q86W28-2;Q86W28	.;NALP8_HUMAN	W	787	ENSP00000291971:R787W	ENSP00000291971:R787W	R	+	1	2	NLRP8	61169536	0.001000	0.12720	0.008000	0.14137	0.025000	0.11179	-0.353000	0.07691	0.313000	0.23062	0.557000	0.71058	CGG		TCGA-2J-AABE-01A-12D-A40W-08	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	1	0	1	49	258	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	49	255	0	44	2								-2.419890	0	1	121412	14	41	1	1	2	3	2.060197	0	0.380000	1.990000	0.389283	0.860000	6.500000e-01	1.000000	1.000000	0.863171	0.860000	1	0.740000	1.000000
ZNF582	147948	broad.mit.edu	37	19	56901800	56901800	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:56901800T>G	ENST00000301310.4	-	3	238	c.80A>C	c.(79-81)cAg>cCg	p.Q27P	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.Q27P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582			26		Colorectal(82;0.000256)|Ovarian(87;0.243)			CAAATCCCTCTGAGCAGGTGC	0.483000													Ovarian(183;1887 2032 4349 30507 51343)											0							SO:0001583	missense			ENST00000301310.4	1	1	hg19	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770086	0.69992	.	.	ENSG00000018869	ENST00000301310	T	0.09538	2.97	4.6	4.6	0.57074	Krueppel-associated box (4);	.	.	.	.	T	0.47691	0.1459	H	0.97564	4.03	0.34108	D	0.662673	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.74284	-0.3715	9	0.87932	D	0	.	13.4023	0.60889	0.0:0.0:0.0:1.0	.	27;58	Q96NG8;B4DQZ9	ZN582_HUMAN;.	P	27	ENSP00000301310:Q27P	ENSP00000301310:Q27P	Q	-	2	0	ZNF582	61593612	1.000000	0.71417	0.985000	0.45067	0.866000	0.49608	5.400000	0.66320	2.054000	0.61138	0.533000	0.62120	CAG		TCGA-2J-AABE-01A-12D-A40W-08	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	1	0	1	83	404	0	62	0	2.979842e-02	0	2	0	62	2		0	0	0	0	0	2	1	1.000000	83	400	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.060197	0	0.380000	1.990000	0.389283	0.910000	7.400000e-01	1.000000	1.000000	0.911824	0.910000	1	0.820000	1.000000
CD1D	912	broad.mit.edu	37	1	158151261	158151261	+	Silent	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:158151261C>T	ENST00000368171.3	+	3	577	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule			30	all_hematologic(112;0.0378)				AAAGGCTTTTCCCCCTCCGCT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000368171.3	1	0	hg19	CCDS1173.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	1	0	0	302	1569	0	241	0	1.252769e-01	0	4	0	241	2		0	0	0	0	0	2	1	1.000000	298	1536	0	226	2								-20.000000	1	1	0	0		1	1	3	4	2.456500	1	0.380000	1.990000	0.495114	0.990000	9.300000e-01	1.000000	1.000000	0.994905	0.990000	1	0.990000	1.000000
CENPF	1063	broad.mit.edu	37	1	214832306	214832306	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:214832306A>T	ENST00000366955.3	+	19	9244	c.9076A>T	c.(9076-9078)Agt>Tgt	p.S3026C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa			126					ATCCCCACTGAGTCTCGGCAA	0.517000											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Colon(80;575 1284 11000 14801 43496)											0							SO:0001583	missense			ENST00000366955.3	1	1	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	9.358	1.067311	0.20067	.	.	ENSG00000117724	ENST00000366955	T	0.03553	3.89	5.63	1.72	0.24424	.	0.578740	0.14474	N	0.317357	T	0.03178	0.0093	L	0.39633	1.23	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.42224	-0.9464	10	0.87932	D	0	.	1.4268	0.02324	0.5106:0.1236:0.1263:0.2395	.	3122	P49454	CENPF_HUMAN	C	3026	ENSP00000355922:S3026C	ENSP00000355922:S3026C	S	+	1	0	CENPF	212898929	0.000000	0.05858	0.001000	0.08648	0.156000	0.22039	0.552000	0.23376	0.931000	0.37242	0.533000	0.62120	AGT		TCGA-2J-AABE-01A-12D-A40W-08	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	0	0	0	15	489	0	49	1	3.367425e-01	2	36	0	49	2		0	0	0	0	0	2	1	0.999858	15	481	0	49	2								-13.595710	1	1	0	0		1	1	3	4	2.426649	1	0.380000	1.990000	0.488786	0.210000	1.100000e-01	1.000000	0.190000	0.392173	0.210000	0	0.150000	1.000000
AKT3	10000	broad.mit.edu	37	1	243778456	243778456	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:243778456A>G	ENST00000366539.1	-	7	769	c.569T>C	c.(568-570)gTg>gCg	p.V190A	AKT3_ENST00000492957.1_5'Flank|AKT3_ENST00000366540.1_Missense_Mutation_p.V190A|AKT3_ENST00000336199.5_Missense_Mutation_p.V190A|AKT3_ENST00000263826.5_Missense_Mutation_p.V190A			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3			26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		AGTGTGTGCCACTTCATCCTA	0.328000																								0							SO:0001583	missense			ENST00000366539.1	1	1	hg19	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450253	0.84101	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	L	0.37850	1.14	0.80722	D	1	P;P	0.49358	0.862;0.923	P;P	0.59889	0.593;0.865	T	0.69491	-0.5131	10	0.52906	T	0.07	.	13.9981	0.64414	1.0:0.0:0.0:0.0	.	190;190	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	A	190	ENSP00000336943:V190A;ENSP00000355498:V190A;ENSP00000355497:V190A;ENSP00000263826:V190A	ENSP00000263826:V190A	V	-	2	0	AKT3	241845079	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.054000	0.71096	2.122000	0.65172	0.459000	0.35465	GTG		TCGA-2J-AABE-01A-12D-A40W-08	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	0	0	0	11	256	0	37	0	3.795127e-02	0	7	0	37	2		0	0	0	0	0	2	1	0.998397	11	255	0	37	2								-12.811840	1	1	0	0		1	1	3	4	2.426649	1	0.380000	1.990000	0.488786	0.300000	1.400000e-01	1.000000	0.270000	0.454752	0.300000	0	0.210000	1.000000
MED18	54797	broad.mit.edu	37	1	28661125	28661125	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:28661125C>T	ENST00000373842.4	+	3	480	c.271C>T	c.(271-273)Cca>Tca	p.P91S	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.P91S	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18			7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)			CCTGGGACAGCCAGAAATGGG	0.582000																								0							SO:0001583	missense			ENST00000373842.4	1	1	hg19	CCDS322.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345319	0.61073	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.75	5.75	0.90469	Mediator complex, subunit Med18, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	L	0.52126	1.63	0.33548	D	0.595697	B	0.14012	0.009	B	0.11329	0.006	T	0.56601	-0.7952	9	0.19147	T	0.46	-9.4996	17.4171	0.87504	0.0:1.0:0.0:0.0	.	91	Q9BUE0	MED18_HUMAN	S	91	.	ENSP00000362948:P91S	P	+	1	0	MED18	28533712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.550000	0.60733	2.728000	0.93425	0.655000	0.94253	CCA		TCGA-2J-AABE-01A-12D-A40W-08	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	1	0	1	120	508	0	92	1	9.639678e-01	10	15	0	92	2		0	0	0	0	0	2	1	1.000000	120	502	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.036992	0	0.380000	1.990000	0.385835	0.990000	8.500000e-01	1.000000	1.000000	0.975981	0.990000	1	0.930000	1.000000
INPP5B	3633	broad.mit.edu	37	1	38354008	38354008	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:38354008G>A	ENST00000373026.1	-	9	1046	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V	INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373023.2_Missense_Mutation_p.A349V|INPP5B_ENST00000373027.1_Missense_Mutation_p.A105V|INPP5B_ENST00000458109.2_Missense_Mutation_p.A32V|INPP5B_ENST00000373024.3_Missense_Mutation_p.A269V			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa			15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)			GTATGTTCCCGCAAAAAACCT	0.458000																								0							SO:0001583	missense			ENST00000373026.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	10.30	1.311269	0.23821	0.0	1.22E-4	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.85	5.85	0.93711	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.062810	0.64402	N	0.000007	T	0.66607	0.2806	N	0.00082	-2.215	0.20975	N	0.999815	B;B	0.12013	0.002;0.005	B;B	0.01281	0.0;0.0	T	0.60332	-0.7284	10	0.02654	T	1	.	12.0299	0.53392	0.9329:0.0:0.0671:0.0	.	349;269	P32019;P32019-2	I5P2_HUMAN;.	V	105;349;349;349;269;32	ENSP00000362118:A105V;ENSP00000362114:A349V;ENSP00000362117:A349V;ENSP00000362115:A269V;ENSP00000397748:A32V	ENSP00000362114:A349V	A	-	2	0	INPP5B	38126595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.160000	0.77495	1.035000	0.39972	-0.254000	0.11334	GCG		TCGA-2J-AABE-01A-12D-A40W-08	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	0	0	0	5	261	0	35	0	3.143181e-02	0	12	0	35	2		0	0	0	0	0	2	1	0.934326	5	256	0	35	2								-2.571393	1	1	120794	9	40	1	1	2	3	2.036992	0	0.380000	1.990000	0.385835	0.100000	3.000000e-02	1.000000	0.100000	0.151726	0.100000	0	0.060000	0.170000
HLCS	3141	broad.mit.edu	37	21	38269242	38269242	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:38269242G>A	ENST00000399120.1	-	7	2599	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Missense_Mutation_p.R457C	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)			24		Myeloproliferative disorder(46;0.0422)		Biotin(DB00121)	AGATTTTGGCGATAGATCTCT	0.468000																								0							SO:0001583	missense			ENST00000399120.1	1	1	hg19	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	9.174	1.021978	0.19433	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.97066	-4.23;-4.23	5.12	5.12	0.69794	.	0.306610	0.33959	N	0.004385	D	0.94175	0.8131	L	0.49350	1.555	0.29287	N	0.869631	B	0.28713	0.22	B	0.15052	0.012	D	0.90047	0.4146	10	0.38643	T	0.18	.	12.3631	0.55215	0.0:0.0:0.7107:0.2892	.	457	P50747	BPL1_HUMAN	C	457	ENSP00000382071:R457C;ENSP00000338387:R457C	ENSP00000338387:R457C	R	-	1	0	HLCS	37191112	0.984000	0.35163	0.331000	0.25455	0.251000	0.25915	1.925000	0.40074	2.551000	0.86045	0.563000	0.77884	CGC		TCGA-2J-AABE-01A-12D-A40W-08	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2	1	0	1	66	291	0	62	1	3.843096e-01	3	4	0	62	2		0	0	0	0	0	2	1	1.000000	66	288	0	61	2								-3.445200	1	1	121412	1	31	1	0	0	0	1.943492	0	0.380000	1.990000	0.360561	0.930000	7.400000e-01	1.000000	1.000000	0.926563	0.930000	1	0.830000	1.000000
EWSR1	2130	broad.mit.edu	37	22	29694822	29694822	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr22:29694822G>A	ENST00000397938.2	+	14	1836	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q	EWSR1_ENST00000331029.7_Missense_Mutation_p.R468Q|EWSR1_ENST00000414183.2_Missense_Mutation_p.R511Q|EWSR1_ENST00000332050.6_Missense_Mutation_p.R433Q|EWSR1_ENST00000332035.6_Missense_Mutation_p.R450Q|EWSR1_ENST00000406548.1_Missense_Mutation_p.R505Q	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	26					CGGGGTTCCCGAGGGAACCCC	0.617000			T	FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1	Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma										Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		L, M	0							SO:0001583	missense			ENST00000397938.2	1	0	hg19	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984297	0.53934	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	D;D;D;D;D;D	0.97041	-4.15;-3.62;-3.74;-4.22;-3.76;-3.64	5.52	3.41	0.39046	.	0.000000	0.64402	U	0.000001	D	0.92688	0.7676	L	0.29908	0.895	0.45634	D	0.998569	B;B;B;B;B	0.17852	0.024;0.024;0.024;0.024;0.024	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	D	0.87313	0.2313	10	0.29301	T	0.29	.	10.1963	0.43056	0.0757:0.1375:0.7868:0.0	.	450;505;450;511;506	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.;.;.;.;EWS_HUMAN	Q	433;506;505;468;511;450	ENSP00000330896:R433Q;ENSP00000381031:R506Q;ENSP00000385726:R505Q;ENSP00000330516:R468Q;ENSP00000400142:R511Q;ENSP00000331699:R450Q	ENSP00000330516:R468Q	R	+	2	0	EWSR1	28024822	1.000000	0.71417	0.987000	0.45799	0.499000	0.33736	6.759000	0.74934	0.679000	0.31345	0.462000	0.41574	CGA		TCGA-2J-AABE-01A-12D-A40W-08	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	0	0	1	17	419	0	42	1	9.998409e-01	42	318	0	42	2		0	0	0	0	0	2	1	0.999944	17	393	0	41	2								-2.698535	1	1	121406	1	35	1	1	2	3	2.031200	0	0.380000	1.990000	0.384676	0.210000	1.200000e-01	1.000000	0.210000	0.239673	0.210000	0	0.160000	0.270000
LCT	3938	broad.mit.edu	37	2	136567449	136567449	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:136567449C>T	ENST00000264162.2	-	8	2478	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase			124				Vitamin C(DB00126)	GCTGCTGTCGCTGAAGTTGAC	0.502000																								0							SO:0001583	missense			ENST00000264162.2	1	1	hg19	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.319345	0.01320	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.50277	0.75	6.03	-6.67	0.01783	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.930568	0.09260	N	0.826760	T	0.10337	0.0253	N	0.00894	-1.105	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.02654	T	1	-7.8485	2.3501	0.04281	0.1009:0.2986:0.2085:0.3921	.	823	P09848	LPH_HUMAN	N	823;255	ENSP00000264162:S823N	ENSP00000264162:S823N	S	-	2	0	LCT	136283919	0.000000	0.05858	0.002000	0.10522	0.411000	0.31082	-0.207000	0.09384	-0.575000	0.05982	-1.193000	0.01689	AGC		TCGA-2J-AABE-01A-12D-A40W-08	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	0	0	0	24	651	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1.000000	24	644	0	73	2								-19.940430	1	1	0	0		1	1	2	3	2.403738	1	0.380000	1.990000	0.478992	0.220000	1.400000e-01	0.320000	0.220000	0.230906	0.220000	0	0.170000	0.280000
SEMA4C	54910	broad.mit.edu	37	2	97527143	97527143	+	Silent	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:97527143C>T	ENST00000305476.5	-	15	1854	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C			17					GGCAGGGCAGCACCAGGTCTG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000305476.5	1	1	hg19	CCDS2029.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	1	0	1	27	178	0	23	1	9.999869e-01	33	89	0	23	2		0	0	0	0	0	2	1	1.000000	24	174	0	21	2								-20.000000	1	1	0	0		1	1	2	3	2.403738	1	0.380000	1.990000	0.478992	0.820000	5.600000e-01	1.000000	1.000000	0.830098	0.820000	0	0.680000	0.980000
NUP210	23225	broad.mit.edu	37	3	13401880	13401880	+	Missense_Mutation	SNP	C	C	T	rs149471357		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:13401880C>T	ENST00000254508.5	-	15	2126	c.2044G>A	c.(2044-2046)Gtc>Atc	p.V682I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa			66	all_neural(104;0.187)				TCAGCGGTGACGTTCTGGAAG	0.557000																								0							SO:0001583	missense			ENST00000254508.5	0	1	hg19	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	7.511	0.654690	0.14580	2.27E-4	0.0	ENSG00000132182	ENST00000254508	T	0.21932	1.98	5.66	-3.03	0.05429	.	0.463730	0.22067	N	0.065098	T	0.08670	0.0215	N	0.04746	-0.17	0.23391	N	0.997774	B;B	0.18310	0.027;0.009	B;B	0.13407	0.009;0.004	T	0.29882	-0.9997	10	0.20519	T	0.43	-17.3968	13.8756	0.63651	0.0:0.4301:0.0:0.5699	.	682;682	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	I	682	ENSP00000254508:V682I	ENSP00000254508:V682I	V	-	1	0	NUP210	13376880	0.001000	0.12720	0.601000	0.28877	0.003000	0.03518	-0.370000	0.07523	-0.380000	0.07894	-0.150000	0.13652	GTC		TCGA-2J-AABE-01A-12D-A40W-08	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	0	0	0	4	139	0	21	0	1.110614e-01	0	16	0	21	2		0	0	0	0	0	2	1	0.886422	3	137	0	21	2								-6.538714	1	0	121412	9	41	1	1	2	3	2.014550	0	0.380000	1.990000	0.382347	0.160000	5.000000e-02	0.390000	0.140000	0.188163	0.160000	0	0.090000	0.260000
PLS1	5357	broad.mit.edu	37	3	142396872	142396872	+	Splice_Site	SNP	A	A	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:142396872A>T	ENST00000337777.3	+	6	710		c.e6-1		PLS1_ENST00000457734.2_Splice_Site|PLS1_ENST00000497002.1_Splice_Site	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1			27					TTTTCTCTTTAGCAAAATGAT	0.274000																								0							SO:0001630	splice_region_variant			ENST00000337777.3	1	1	hg19	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194080	0.78902	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6515	0.68800	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLS1	143879562	1.000000	0.71417	0.993000	0.49108	0.914000	0.54420	8.858000	0.92256	1.864000	0.54056	0.533000	0.62120	.		TCGA-2J-AABE-01A-12D-A40W-08	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	1	0	1	38	188	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1.000000	38	186	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.014550	0	0.380000	1.990000	0.382347	0.880000	6.500000e-01	1.000000	1.000000	0.881262	0.880000	1	0.760000	1.000000
CISH	1154	broad.mit.edu	37	3	50645400	50645400	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:50645400G>C	ENST00000348721.3	-	3	595	c.415C>G	c.(415-417)Cgt>Ggt	p.R139G	CISH_ENST00000443053.2_Missense_Mutation_p.R156G	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein			5					GAGTCCAGACGGAAGCTGGAG	0.582000																								0							SO:0001583	missense			ENST00000348721.3	1	1	hg19	CCDS2831.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803142	0.70682	.	.	ENSG00000114737	ENST00000443053;ENST00000348721	T;T	0.45276	0.9;0.91	5.64	4.72	0.59763	SH2 motif (4);	0.118165	0.64402	D	0.000014	T	0.52273	0.1724	L	0.38649	1.16	0.46849	D	0.999222	D;D	0.65815	0.994;0.995	D;D	0.69307	0.931;0.963	T	0.43893	-0.9363	10	0.36615	T	0.2	-0.3525	15.0278	0.71682	0.0:0.0:0.8569:0.1431	.	156;139	G5E9R1;Q9NSE2	.;CISH_HUMAN	G	156;139	ENSP00000409346:R156G;ENSP00000294173:R139G	ENSP00000294173:R139G	R	-	1	0	CISH	50620404	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.623000	0.46435	2.648000	0.89879	0.563000	0.77884	CGT		TCGA-2J-AABE-01A-12D-A40W-08	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346245.1	1	0	1	34	172	0	21	1	9.928694e-01	8	34	0	21	2		0	0	0	0	0	2	1	1.000000	33	170	0	20	2								-3.070117	1	0	0	0		1	1	2	3	2.014550	0	0.380000	1.990000	0.382347	0.870000	6.200000e-01	1.000000	1.000000	0.867694	0.870000	1	0.740000	1.000000
DNAH1	25981	broad.mit.edu	37	3	52388864	52388864	+	Silent	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52388864G>A	ENST00000420323.2	+	21	3747	c.3486G>A	c.(3484-3486)ctG>ctA	p.L1162L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1			62					CCCAGGCACTGGACAAGATGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000420323.2	0	1	hg19	CCDS46842.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	1	0	1	27	122	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	1.000000	27	119	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.014550	0	0.380000	1.990000	0.382347	0.950000	6.600000e-01	1.000000	1.000000	0.918015	0.950000	1	0.800000	1.000000
GNL3	26354	broad.mit.edu	37	3	52728222	52728222	+	Silent	SNP	A	A	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52728222A>G	ENST00000418458.1	+	15	1754	c.1581A>G	c.(1579-1581)acA>acG	p.T527T	SNORD19_ENST00000410413.1_RNA|SNORD69_ENST00000391150.1_RNA|GNL3_ENST00000394799.2_Silent_p.T515T|GLT8D1_ENST00000463827.1_5'Flank	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)			12					AACAGTCTACAAGGTCTTTTA	0.333000																								0							SO:0001819	synonymous_variant			ENST00000418458.1	1	1	hg19	CCDS2861.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	0	0	1	42	230	0	57	1	1	49	117	0	57	2		0	0	0	0	0	2	1	1.000000	42	227	0	56	2								-19.974340	1	1	0	0		1	1	2	3	2.014550	0	0.380000	1.990000	0.382347	0.810000	6.000000e-01	1.000000	1.000000	0.821955	0.810000	0	0.700000	0.940000
NEK4	6787	broad.mit.edu	37	3	52778267	52778267	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52778267T>C	ENST00000233027.5	-	11	2084	c.1882A>G	c.(1882-1884)Atg>Gtg	p.M628V	NEK4_ENST00000535191.1_Missense_Mutation_p.M539V|NEK4_ENST00000383721.4_Missense_Mutation_p.M582V	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4			26					GAAGAGGACATTTCTTCCTGT	0.418000																								0							SO:0001583	missense			ENST00000233027.5	1	1	hg19	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	T	8.038	0.763137	0.15914	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.71103	2.32;2.32;-0.54;2.32	6.17	-0.564	0.11774	.	1.039550	0.07482	N	0.904039	T	0.47691	0.1459	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.28459	-1.0043	10	0.06891	T	0.86	.	5.4975	0.16811	0.0:0.3227:0.141:0.5363	.	539;582;628	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	V	628;539;582;539	ENSP00000233027:M628V;ENSP00000437703:M539V;ENSP00000373227:M582V;ENSP00000419666:M539V	ENSP00000233027:M628V	M	-	1	0	NEK4	52753307	0.000000	0.05858	0.033000	0.17914	0.775000	0.43874	-0.347000	0.07750	-0.024000	0.13941	0.533000	0.62120	ATG		TCGA-2J-AABE-01A-12D-A40W-08	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	1	0	1	170	716	0	130	1	9.792972e-01	13	15	0	130	2		0	0	0	0	0	2	1	1.000000	170	706	0	127	2								-20.000000	1	1	0	0		1	1	2	3	2.014550	0	0.380000	1.990000	0.382347	0.990000	8.700000e-01	1.000000	1.000000	0.979395	0.990000	1	0.940000	1.000000
ABHD6	57406	broad.mit.edu	37	3	58270837	58270837	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:58270837G>A	ENST00000478253.1	+	8	1208	c.707G>A	c.(706-708)cGc>cAc	p.R236H	ABHD6_ENST00000295962.4_Missense_Mutation_p.R236H			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	p.R236H(1)		16					GTCGATGTCCGCATCCCTCAT	0.443000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000478253.1	0	1	hg19	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435491	0.96150	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.76709	-1.04;-1.04	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.86578	0.1852	10	0.39692	T	0.17	-11.2637	19.3704	0.94481	0.0:0.0:1.0:0.0	.	236;236	Q9BV23;F5H7L1	ABHD6_HUMAN;.	H	236	ENSP00000420315:R236H;ENSP00000295962:R236H	ENSP00000295962:R236H	R	+	2	0	ABHD6	58245877	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.134000	0.89606	2.666000	0.90696	0.655000	0.94253	CGC		TCGA-2J-AABE-01A-12D-A40W-08	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	0	0	0	5	507	0	93	0	7.955667e-03	0	11	0	93	2		0	0	0	0	0	2	1	0.935871	5	501	0	91	2								-1.992894	0	1	121412	2	31	1	1	2	3	2.014550	0	0.380000	1.990000	0.382347	0.050000	1.000000e-02	0.130000	0.060000	0.070632	0.050000	0	0.030000	0.090000
TBC1D19	55296	broad.mit.edu	37	4	26756566	26756566	+	Silent	SNP	C	C	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:26756566C>G	ENST00000264866.4	+	21	1856	c.1578C>G	c.(1576-1578)acC>acG	p.T526T	TBC1D19_ENST00000511789.1_Silent_p.T461T	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19			17		Breast(46;0.0503)			CTACTGTCACCTGATCTTCTT	0.323000																								0							SO:0001819	synonymous_variant			ENST00000264866.4	1	1	hg19	CCDS3439.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	1	0	1	48	273	0	54	0	7.136405e-01	1	15	0	54	2		0	0	0	0	0	2	1	1.000000	48	269	0	52	2								-2.749728	1	1	0	0		1	1	2	3	2.025601	0	0.380000	1.990000	0.384676	0.790000	6.000000e-01	1.000000	1.000000	0.804632	0.790000	0	0.690000	0.920000
KIAA1211	57482	broad.mit.edu	37	4	57182165	57182165	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:57182165C>T	ENST00000504228.1	+	6	2602	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P833S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P826S			Q6ZU35	K1211_HUMAN	KIAA1211			65	Glioma(25;0.08)|all_neural(26;0.101)				AAAGCCAGACCCTGTGATGCC	0.532000																								0							SO:0001583	missense			ENST00000504228.1	1	1	hg19	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403520	0.42613	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11277	2.8;2.8;2.79	4.77	1.86	0.25419	.	.	.	.	.	T	0.13329	0.0323	L	0.56769	1.78	0.09310	N	1	P;P;B	0.42248	0.774;0.774;0.228	B;B;B	0.41723	0.365;0.365;0.083	T	0.10917	-1.0609	9	0.56958	D	0.05	-4.1736	9.2456	0.37523	0.2097:0.4454:0.3449:0.0	.	826;826;833	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	S	833;833;826;743	ENSP00000264229:P833S;ENSP00000423366:P833S;ENSP00000444006:P826S	ENSP00000264229:P833S	P	+	1	0	KIAA1211	56876922	0.000000	0.05858	0.043000	0.18650	0.354000	0.29330	-0.069000	0.11542	0.568000	0.29311	0.561000	0.74099	CCT		TCGA-2J-AABE-01A-12D-A40W-08	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	1	0	1	53	236	0	22	1	3.809426e-01	2	5	0	22	2		0	0	0	0	0	2	1	1.000000	53	234	0	20	2								-3.146851	1	1	0	0		1	1	2	3	2.025601	0	0.380000	1.990000	0.384676	0.970000	7.500000e-01	1.000000	1.000000	0.942110	0.970000	1	0.850000	1.000000
SPINK2	6691	broad.mit.edu	37	4	57676313	57676313	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:57676313G>A	ENST00000248701.4	-	4	326	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	SPINK2_ENST00000506738.1_Missense_Mutation_p.P133S|SPINK2_ENST00000504762.1_Missense_Mutation_p.P118S	NM_021114.2	NP_066937.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)			4	Glioma(25;0.08)|all_neural(26;0.181)				CATCAGCAGGGTCCATTTCGA	0.368000																								0							SO:0001583	missense			ENST00000248701.4	1	1	hg19	CCDS3508.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564566	0.45694	.	.	ENSG00000128040	ENST00000248701;ENST00000506738;ENST00000504762	T;T;T	0.75260	-0.92;-0.92;-0.92	5.16	4.3	0.51218	Proteinase inhibitor I1, Kazal (2);	0.478828	0.19574	N	0.111039	T	0.81564	0.4849	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70051	-0.4978	9	0.36615	T	0.2	-14.0426	9.7317	0.40366	0.0954:0.0:0.9046:0.0	.	83	P20155	ISK2_HUMAN	S	83;133;118	ENSP00000248701:P83S;ENSP00000425961:P133S;ENSP00000423858:P118S	ENSP00000248701:P83S	P	-	1	0	SPINK2	57371070	0.051000	0.20477	0.147000	0.22382	0.019000	0.09904	1.709000	0.37909	2.683000	0.91414	0.563000	0.77884	CCC		TCGA-2J-AABE-01A-12D-A40W-08	SPINK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250690.2	0	0	1	29	135	1	39		0	0	0	1	39	2		0	0	0	0	0	2	1	0.995318	29	134	1	38	14								-20.000000	1	1	0	0		1	1	2	3	2.025601	0	0.380000	1.990000	0.384676	0.940000	6.500000e-01	1.000000	1.000000	0.910764	0.940000	1	0.790000	1.000000
UGT2B15	7366	broad.mit.edu	37	4	69533868	69533868	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:69533868C>G	ENST00000338206.5	-	2	772	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15							Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	AGCCACATTTCAGCTTTCCCC	0.378000																								0							SO:0001583	missense			ENST00000338206.5	0	1	hg19	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	12.33	1.905894	0.33628	.	.	ENSG00000196620	ENST00000338206	T	0.61742	0.08	2.44	2.44	0.29823	.	0.138014	0.47093	U	0.000252	T	0.58177	0.2104	M	0.83312	2.635	0.31256	N	0.69353	B	0.31153	0.31	B	0.31337	0.128	T	0.67090	-0.5758	10	0.56958	D	0.05	.	10.5504	0.45085	0.0:1.0:0.0:0.0	.	255	P54855	UDB15_HUMAN	Q	255	ENSP00000341045:E255Q	ENSP00000341045:E255Q	E	-	1	0	UGT2B15	69216463	0.999000	0.42202	0.344000	0.25628	0.679000	0.39708	2.545000	0.45769	1.352000	0.45808	0.305000	0.20034	GAA		TCGA-2J-AABE-01A-12D-A40W-08	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	0	0	0	6	566	0	103	0	1.762759e-02	0	16	0	103	2		0	0	0	0	0	2	0	0.033548	5	510	1	142	14								-3.311900	1	1	0	0		1	1	2	3	2.025601	0	0.380000	1.990000	0.384676	0.050000	1.000000e-02	1.000000	0.060000	0.091441	0.050000	0	0.030000	0.090000
PCDHB7	56129	broad.mit.edu	37	5	140554541	140554541	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140554541G>T	ENST00000231137.3	+	1	2299	c.2125G>T	c.(2125-2127)Gtg>Ttg	p.V709L	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7			119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GTTCGTGGCGGTGCGGCTGTG	0.697000																								0							SO:0001583	missense			ENST00000231137.3	1	1	hg19	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.312041	0.60414	.	.	ENSG00000113212	ENST00000231137	T	0.11385	2.78	3.98	1.93	0.25924	.	.	.	.	.	T	0.10809	0.0264	M	0.63208	1.945	0.09310	N	1	B	0.24651	0.108	B	0.26614	0.071	T	0.37686	-0.9695	9	0.15066	T	0.55	.	6.341	0.21322	0.1747:0.4309:0.3944:0.0	.	709	Q9Y5E2	PCDB7_HUMAN	L	709	ENSP00000231137:V709L	ENSP00000231137:V709L	V	+	1	0	PCDHB7	140534725	0.000000	0.05858	0.400000	0.26346	0.981000	0.71138	-0.438000	0.06905	0.740000	0.32651	0.449000	0.29647	GTG		TCGA-2J-AABE-01A-12D-A40W-08	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	0	85	539	0	97	0	0	0	1	0	97	2		0	0	0	0	2	2	1	1.000000	84	516	0	100	2								-20.000000	1	0	0	0		1	1	2	3	2.018320	0	0.380000	1.990000	0.382347	0.710000	5.800000e-01	0.890000	0.710000	0.726625	0.710000	0	0.640000	0.800000
PCDHGA1	56114	broad.mit.edu	37	5	140711696	140711696	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140711696A>G	ENST00000517417.1	+	1	1445	c.1445A>G	c.(1444-1446)aAt>aGt	p.N482S	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N482S	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TTGGACAGCAATGAGAATGCA	0.532000																								0							SO:0001583	missense			ENST00000517417.1	0	1	hg19	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	A	1.687	-0.504958	0.04261	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01725	4.67;4.67	3.82	1.3	0.21679	Cadherin (4);Cadherin-like (1);	0.601272	0.14799	N	0.297753	T	0.01661	0.0053	L	0.46157	1.445	0.09310	N	1	B;B	0.17465	0.005;0.022	B;B	0.18263	0.008;0.021	T	0.48670	-0.9015	10	0.18710	T	0.47	.	2.5653	0.04782	0.3725:0.0:0.278:0.3495	.	482;482	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	S	482	ENSP00000431083:N482S;ENSP00000367345:N482S	ENSP00000367345:N482S	N	+	2	0	PCDHGA1	140691880	0.000000	0.05858	0.021000	0.16686	0.509000	0.34042	0.572000	0.23684	0.154000	0.19237	0.455000	0.32223	AAT		TCGA-2J-AABE-01A-12D-A40W-08	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	0	0	0	7	550	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	0.979427	6	541	0	85	2								-6.088479	1	1	0	0		1	1	2	3	2.018320	0	0.380000	1.990000	0.382347	0.060000	2.000000e-02	0.150000	0.060000	0.084462	0.060000	0	0.040000	0.100000
UTRN	7402	broad.mit.edu	37	6	144780435	144780435	+	Silent	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:144780435C>T	ENST00000367545.3	+	20	2652	c.2652C>T	c.(2650-2652)ggC>ggT	p.G884G		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin			148		Ovarian(120;0.218)			GCTTTCTGGGCCGCTACCAAG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000367545.3	1	1	hg19	CCDS34547.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	1	0	0	12	211	0	36	0	1.963265e-02	0	4	0	36	2		0	0	0	0	0	2	1	0.999147	12	209	0	36	2								-3.083932	1	1	0	0		1	0	1	1	1.632494	1	0.380000	1.990000	0.234568	0.230000	1.200000e-01	0.370000	0.230000	0.242722	0.230000	0	0.170000	0.300000
PKHD1	5314	broad.mit.edu	37	6	51921495	51921495	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:51921495C>T	ENST00000371117.3	-	18	1969		c.e18+1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)			304	Lung NSC(77;0.0605)				ACGGACAGCACCTCGTTCAAA	0.403000																								0							SO:0001630	splice_region_variant			ENST00000371117.3	1	1	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	8.374	0.835970	0.16891	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.4	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6228	0.51128	0.1778:0.8222:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKHD1	52029454	1.000000	0.71417	0.966000	0.40874	0.011000	0.07611	2.724000	0.47285	1.272000	0.44329	-0.475000	0.04921	.		TCGA-2J-AABE-01A-12D-A40W-08	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	1	0	1	66	358	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1.000000	66	355	0	33	2								-20.000000	1	1	0	0		1	1	2	3	2.006828	0	0.380000	1.990000	0.381176	0.810000	6.400000e-01	1.000000	0.820000	0.824714	0.810000	0	0.720000	0.920000
PHIP	55023	broad.mit.edu	37	6	79655783	79655783	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:79655783G>A	ENST00000275034.4	-	38	4732	c.4565C>T	c.(4564-4566)tCt>tTt	p.S1522F	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein			68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)			TGAAGAAGTAGATGGTTGCTC	0.388000																								0							SO:0001583	missense			ENST00000275034.4	1	1	hg19	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550555	0.65311	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.47528	0.84	6.17	6.17	0.99709	.	0.073633	0.64402	D	0.000017	T	0.46600	0.1401	L	0.27053	0.805	0.51767	D	0.999936	D;D	0.67145	0.996;0.996	P;P	0.61940	0.896;0.896	T	0.18618	-1.0331	9	.	.	.	-18.2928	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1522;1522	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	1522;248	ENSP00000275034:S1522F	.	S	-	2	0	PHIP	79712502	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.084000	0.64462	2.941000	0.99782	0.655000	0.94253	TCT		TCGA-2J-AABE-01A-12D-A40W-08	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	1	0	1	59	199	0	50	1	2.306743e-01	2	2	0	50	2	0	0	0	1	0	5	2	1	1.000000	59	198	0	50	2								-20.000000	1	1	0	0		1	0	1	1	1.632494	1	0.380000	1.990000	0.234568	0.910000	7.400000e-01	1.000000	0.960000	0.904323	0.910000	1	0.820000	0.980000
RARS2	57038	broad.mit.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	ORC3_ENST00000257789.4_5'Flank|ORC3_ENST00000546266.1_5'Flank|ORC3_ENST00000417380.2_5'Flank|ORC3_ENST00000392844.3_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	p.R6C(1)		22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)			ATAGCGCGGCGAAAGCCGCAC	0.672000											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)												1	Substitution - Missense(1)						SO:0001583	missense			ENST00000369536.5	1	1	hg19	CCDS5011.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.34	3.364729	0.61513	.	.	ENSG00000146282	ENST00000369536	T	0.73897	-0.79	5.11	5.11	0.69529	Arginyl tRNA synthetase, class Ia, N-terminal (2);	0.101495	0.64402	D	0.000003	T	0.70753	0.3260	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.50231	0.635	T	0.75277	-0.3374	10	0.87932	D	0	.	14.2251	0.65853	0.0:0.0:1.0:0.0	.	6	Q5T160	SYRM_HUMAN	C	6	ENSP00000358549:R6C	ENSP00000358549:R6C	R	-	1	0	RARS2	88356379	1.000000	0.71417	0.978000	0.43139	0.031000	0.12232	2.529000	0.45632	2.826000	0.97356	0.655000	0.94253	CGC		TCGA-2J-AABE-01A-12D-A40W-08	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	1	0	1	25	122	0	28	1	7.509594e-01	2	13	0	28	2		0	0	0	0	0	2	1	1.000000	25	114	0	27	2								-2.763252	1	1	121402	4	35	1	0	1	1	1.632494	1	0.380000	1.990000	0.234568	0.710000	4.800000e-01	0.940000	0.710000	0.719844	0.710000	0	0.590000	0.840000
ACTB	60	broad.mit.edu	37	7	5567750	5567750	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:5567750C>T	ENST00000331789.5	-	5	1060	c.869G>A	c.(868-870)cGc>cAc	p.R290H	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta			8		Ovarian(82;0.0606)			CAGGTCTTTGCGGATGTCCAC	0.562000																								0							SO:0001583	missense			ENST00000331789.5	0	1	hg19	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237064	0.39498	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95885	-3.84	5.41	4.53	0.55603	.	0.000000	0.64402	D	0.000018	D	0.97551	0.9198	M	0.92367	3.3	0.45899	D	0.99874	P	0.36354	0.549	P	0.50378	0.639	D	0.98041	1.0382	10	0.87932	D	0	.	13.0524	0.58962	0.0:0.9212:0.0:0.0788	.	290	P60709	ACTB_HUMAN	H	290;266;262;209	ENSP00000349960:R290H	ENSP00000440549:R209H	R	-	2	0	ACTB	5534276	1.000000	0.71417	0.875000	0.34327	0.902000	0.53008	7.533000	0.81994	1.294000	0.44707	0.556000	0.70494	CGC		TCGA-2J-AABE-01A-12D-A40W-08	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	0	0	0	6	736	0	124	1	9.999995e-01	2	7069	0	124	2		0	0	0	0	0	2	1	0.962629	5	722	0	123	2								-1.855971	0	0	0	0		1	1	2	3	2.043563	0	0.380000	1.990000	0.386988	0.040000	0	1.000000	0.040000	0.094546	0.040000	0	0.020000	0.070000
DYNC1I1	1780	broad.mit.edu	37	7	95442629	95442629	+	Silent	SNP	C	C	T	rs145885345		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:95442629C>T	ENST00000324972.6	+	4	538	c.345C>T	c.(343-345)ggC>ggT	p.G115G	DYNC1I1_ENST00000537881.1_Silent_p.G98G|DYNC1I1_ENST00000437599.1_Silent_p.G115G|DYNC1I1_ENST00000413338.1_Silent_p.G98G|DYNC1I1_ENST00000457059.1_Silent_p.G98G|DYNC1I1_ENST00000447467.2_Silent_p.G98G|DYNC1I1_ENST00000359388.4_Silent_p.G98G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1			54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)		AAGACTCAGGCGATCTGGGGC	0.423000																								0							SO:0001819	synonymous_variant			ENST00000324972.6	1	1	hg19	CCDS5644.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	1	0	0	51	229	0	62	0	9.046868e-02	0	3	0	62	2		0	0	0	0	0	2	1	1.000000	51	223	0	62	2								-3.318794	1	1	121390	28	46	1	1	2	3	2.034391	0	0.380000	1.990000	0.385835	0.970000	7.400000e-01	1.000000	1.000000	0.939434	0.970000	1	0.850000	1.000000
RIMS2	9699	broad.mit.edu	37	8	105160951	105160951	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr8:105160951C>T	ENST00000436393.2	+	23	3504	c.3263C>T	c.(3262-3264)tCt>tTt	p.S1088F	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2			144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		GGCAGCCAGTCTGACACTGCA	0.517000										HNSCC(12;0.0054)														0							SO:0001583	missense			ENST00000436393.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	24.2	4.505487	0.85282	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.25579	1.79;2.34	5.65	5.65	0.86999	.	.	.	.	.	T	0.55289	0.1911	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	T	0.58042	-0.7706	8	0.87932	D	0	.	19.8067	0.96534	0.0:1.0:0.0:0.0	.	1088	D6RA03	.	F	1077;1088	ENSP00000386228:S1077F;ENSP00000390665:S1088F	ENSP00000386228:S1077F	S	+	2	0	RIMS2	105230127	1.000000	0.71417	0.974000	0.42286	0.999000	0.98932	7.789000	0.85783	2.672000	0.90937	0.650000	0.86243	TCT		TCGA-2J-AABE-01A-12D-A40W-08	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	0	0	1	37	189	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1.000000	36	180	0	26	2								-20.000000	1	1	0	0		1	1	2	3	2.019871	0	0.380000	1.990000	0.382347	0.860000	6.300000e-01	1.000000	1.000000	0.863100	0.860000	1	0.740000	1.000000
ACTRT1	139741	broad.mit.edu	37	X	127185142	127185142	+	Silent	SNP	G	G	T			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chrX:127185142G>T	ENST00000371124.3	-	1	1240	c.1044C>A	c.(1042-1044)acC>acA	p.T348T		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1			34					TGCTCATAGAGGTCATGATGG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000371124.3	0	1	hg19	CCDS14611.1																																																																																				TCGA-2J-AABE-01A-12D-A40W-08	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	0	0	0	5	297	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	0.936955	5	295	0	51	2								-2.835725	1	1	0	0		1	0	1	1			0.380000	1.990000	0.380000	0.040000	1.000000e-02	0.100000	0.040000	0.051652	0.040000	0	0.020000	0.070000