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
SORCS3	22986	broad.mit.edu	37	10	106924113	106924113	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr10:106924113C>T	ENST00000369701.3	+	12	2012	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3			131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)			TCATCTCCTCCGATGGGGGCA	0.433000													NSCLC(116;1497 1690 7108 13108 14106)											0							SO:0001819	synonymous_variant			ENST00000369701.3	1	1	hg19	CCDS7558.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	0	0	0	6	299	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.963558	6	294	0	35	2								-2.949334	1	1	121406	23	44	1	1	2	3	2.086066	0	0.400000	1.870000	0.405941	0.100000	0.030000	1.000000	0.100000	0.148218	0.100000	0	0.060000	0.160000
INPP5F	22876	broad.mit.edu	37	10	121510593	121510593	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr10:121510593G>A	ENST00000361976.2	+	2	269	c.103G>A	c.(103-105)Gat>Aat	p.D35N	INPP5F_ENST00000369083.3_Missense_Mutation_p.D35N	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F			42		Lung NSC(174;0.109)|all_lung(145;0.142)			TTTAGCTACTGATCTACTTCT	0.328000											OREG0020583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000361976.2	1	1	hg19	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981610	0.93044	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.58797	0.81;0.31	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.988;0.996	P;D	0.79784	0.815;0.993	T	0.73395	-0.3996	10	0.59425	D	0.04	-30.4133	19.4436	0.94836	0.0:0.0:1.0:0.0	.	35;35	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	N	35	ENSP00000354519:D35N;ENSP00000358079:D35N	ENSP00000354519:D35N	D	+	1	0	INPP5F	121500583	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.483000	0.81158	2.894000	0.99253	0.591000	0.81541	GAT		TCGA-HZ-7919-01A-11D-2154-08	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	1	0	1	80	253	0	52	1	8.804175e-01	2	12	0	52	2		0	0	0	0	0	2	1	1.000000	80	252	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.086066	0	0.400000	1.870000	0.405941	0.990000	0.980000	1.000000	1.000000	0.998857	0.990000	1	0.990000	1.000000
ZNF259	0	broad.mit.edu	37	11	116652933	116652933	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:116652933C>T	ENST00000227322.3	-	12	1179	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN				9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)			TTGGAACTGTCGCCCAGTGTG	0.458000																								0							SO:0001583	missense			ENST00000227322.3	0	1	hg19	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.735372|5.735372	0.96865|0.96865	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000429220	T|.	0.44881|.	0.91|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Zinc finger, ZPR1-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88343|0.88343	0.6411|0.6411	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90566|0.90566	0.4519|0.4519	10|5	0.72032|.	D|.	0.01|.	-35.8364|-35.8364	20.5407|20.5407	0.99260|0.99260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	374|.	O75312|.	ZPR1_HUMAN|.	N|Q	374|300	ENSP00000227322:D374N|.	ENSP00000227322:D374N|.	D|R	-|-	1|2	0|0	ZNF259|ZNF259	116158143|116158143	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.861000|0.861000	0.49209|0.49209	6.708000|6.708000	0.74660|0.74660	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAC|CGA		TCGA-HZ-7919-01A-11D-2154-08	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2	0	0	0	8	339	0	39	1	9.106167e-01	8	175	0	39	2		0	0	0	0	0	2	1	0.989196	8	336	0	39	2								-2.637301	1	1	0	0		1	1	2	3	2.075745	0	0.400000	1.870000	0.402390	0.120000	0.050000	0.240000	0.120000	0.137433	0.120000	0	0.080000	0.170000
SIDT2	51092	broad.mit.edu	37	11	117058103	117058103	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:117058103G>C	ENST00000324225.4	+	11	1556	c.1025G>C	c.(1024-1026)cGa>cCa	p.R342P	SIDT2_ENST00000431081.2_Missense_Mutation_p.R346P	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2			36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			GGTCACCCTCGAGTCCTGGCT	0.522000																								0							SO:0001583	missense			ENST00000324225.4	1	1	hg19	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250742	0.39797	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.18810	2.19;2.22;2.21	4.93	4.93	0.64822	.	0.308789	0.32473	N	0.006059	T	0.14830	0.0358	N	0.03154	-0.405	0.34842	D	0.740825	B;P;B;P	0.40032	0.416;0.699;0.324;0.471	B;B;P;P	0.48488	0.443;0.224;0.482;0.579	T	0.28364	-1.0046	10	0.33940	T	0.23	-23.5708	12.0315	0.53399	0.0826:0.0:0.9174:0.0	.	342;346;342;342	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	P	342;342;346	ENSP00000314023:R342P;ENSP00000278951:R342P;ENSP00000399635:R346P	ENSP00000278951:R342P	R	+	2	0	SIDT2	116563313	0.924000	0.31332	1.000000	0.80357	0.972000	0.66771	4.485000	0.60279	2.576000	0.86940	0.561000	0.74099	CGA		TCGA-HZ-7919-01A-11D-2154-08	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	1	0	1	117	531	0	92	1	9.975743e-01	6	37	0	92	2		0	0	0	0	0	2	1	1.000000	116	526	0	91	2								-2.972818	1	1	0	0		1	1	2	3	2.075745	0	0.400000	1.870000	0.402390	0.900000	0.760000	1.000000	1.000000	0.905483	0.900000	1	0.820000	0.990000
ESAM	90952	broad.mit.edu	37	11	124626110	124626110	+	Silent	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:124626110T>C	ENST00000278927.5	-	4	729	c.600A>G	c.(598-600)ccA>ccG	p.P200P	RP11-677M14.3_ENST00000504932.2_RNA|ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule			16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			CACCTAATGCTGGTGCAAAGA	0.562000																								0							SO:0001819	synonymous_variant			ENST00000278927.5	1	1	hg19	CCDS8453.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	1	0	1	53	162	0	31	1	1	10	98	0	31	2		0	0	0	0	0	2	1	1.000000	53	162	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.075745	0	0.400000	1.870000	0.402390	0.990000	0.960000	1.000000	1.000000	0.997660	0.990000	1	0.990000	1.000000
TCP11L1	55346	broad.mit.edu	37	11	33094069	33094069	+	Silent	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:33094069G>A	ENST00000334274.4	+	10	1777	c.1377G>A	c.(1375-1377)caG>caA	p.Q459Q	TCP11L1_ENST00000531632.2_Silent_p.Q459Q|TCP11L1_ENST00000432887.1_Silent_p.Q459Q|TCP11L1_ENST00000324357.9_Silent_p.Q238Q	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1			6					CGGGTCATCAGAAGCCATTGC	0.463000																								0							SO:0001819	synonymous_variant			ENST00000334274.4	1	1	hg19	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907562	0.17833	.	.	ENSG00000176148	ENST00000528962	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	T	0.70919	0.3279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69383	-0.5160	4	.	.	.	-34.9109	14.752	0.69533	0.0:0.1444:0.8556:0.0	.	.	.	.	K	75	.	.	E	+	1	0	TCP11L1	33050645	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.822000	0.48073	2.530000	0.85305	0.313000	0.20887	GAA		TCGA-HZ-7919-01A-11D-2154-08	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	1	0	1	192	875	0	109	1	9.967641e-01	16	25	0	109	2		0	0	0	0	0	2	1	1.000000	191	870	0	107	2								-20.000000	1	1	0	0		1	1	2	3	2.075745	0	0.400000	1.870000	0.402390	0.890000	0.780000	1.000000	1.000000	0.904446	0.890000	1	0.840000	0.970000
OR5T3	390154	broad.mit.edu	37	11	56019769	56019769	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:56019769C>T	ENST00000303059.3	+	1	94	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3			39	Esophageal squamous(21;0.00448)				ATACAGGAATCCACTGAAGAA	0.358000																								0							SO:0001583	missense			ENST00000303059.3	1	1	hg19	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	0.416	-0.910669	0.02434	.	.	ENSG00000172489	ENST00000303059	T	0.02197	4.4	4.23	-0.0294	0.13918	.	4.020620	0.00871	U	0.002031	T	0.01222	0.0040	N	0.04705	-0.18	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.41893	-0.9483	10	0.07990	T	0.79	.	2.0557	0.03581	0.156:0.4868:0.1525:0.2047	.	32	Q8NGG3	OR5T3_HUMAN	S	32	ENSP00000305403:P32S	ENSP00000305403:P32S	P	+	1	0	OR5T3	55776345	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.396000	0.07278	0.131000	0.18576	-0.366000	0.07423	CCA		TCGA-HZ-7919-01A-11D-2154-08	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	1	0	1	89	307	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1.000000	89	305	0	48	2								-4.205829	1	1	0	0		1	1	2	3	2.075745	0	0.400000	1.870000	0.402390	0.990000	0.920000	1.000000	1.000000	0.995244	0.990000	1	0.990000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	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-HZ-7919-01A-11D-2154-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	36	82	0	14	1	9.999963e-01	26	25	0	14	2	1	1	182	495	0	402	2	1	1.000000	36	81	0	14	2								-20.000000	1	1	0	0		1	1	2	3	2.514875	1	0.400000	1.870000	0.500000	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	0.990000	1.000000
KCNA5	3741	broad.mit.edu	37	12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5			52				Dalfampridine(DB06637)	GAAGTGTAACGTCAAGGCCAA	0.592000																								0							SO:0001583	missense			ENST00000252321.3	1	1	hg19	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	7.036	0.561517	0.13498	.	.	ENSG00000130037	ENST00000252321	D	0.97279	-4.32	5.5	3.64	0.41730	.	0.104471	0.38492	U	0.001664	D	0.87665	0.6234	N	0.01352	-0.895	0.21445	N	0.999687	B	0.06786	0.001	B	0.04013	0.001	T	0.78513	-0.2175	10	0.24483	T	0.36	.	9.733	0.40372	0.2849:0.5814:0.1337:0.0	.	588	P22460	KCNA5_HUMAN	I	588	ENSP00000252321:V588I	ENSP00000252321:V588I	V	+	1	0	KCNA5	5025336	0.990000	0.36364	1.000000	0.80357	0.936000	0.57629	0.640000	0.24705	0.668000	0.31126	-0.311000	0.09066	GTC		TCGA-HZ-7919-01A-11D-2154-08	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	1	0	1	48	163	0	33	0	8.830963e-01	0	15	0	33	2		0	0	0	0	0	2	1	1.000000	48	161	0	33	2								-20.000000	1	1	0	0		1	0	1	1	1.673073	1	0.400000	1.870000	0.257426	0.880000	0.690000	1.000000	1.000000	0.884370	0.880000	1	0.780000	0.980000
KRT4	3851	broad.mit.edu	37	12	53202606	53202606	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:53202606C>G	ENST00000551956.1	-	5	1355	c.863G>C	c.(862-864)aGc>aCc	p.S288T	KRT4_ENST00000293774.4_Missense_Mutation_p.S362T|KRT4_ENST00000458244.2_Missense_Mutation_p.S268T			P19013	K2C4_HUMAN	keratin 4			29					GGACGTGTCGCTGACATGGGT	0.577000													Pancreas(190;284 2995 41444 45903)											0							SO:0001583	missense			ENST00000551956.1	1	1	hg19	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346494	0.24426	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;T;D	0.88975	-2.45;-1.16;-2.45	5.75	1.28	0.21552	Filament (1);	0.601484	0.14726	N	0.302055	D	0.93109	0.7806	M	0.83012	2.62	0.09310	N	1	P	0.46277	0.875	P	0.49953	0.627	D	0.88388	0.3006	10	0.87932	D	0	.	22.2785	0.99969	0.0:0.2887:0.7113:0.0	.	302	P19013	K2C4_HUMAN	T	288;362;268	ENSP00000448220:S288T;ENSP00000293774:S362T;ENSP00000387904:S268T	ENSP00000293774:S362T	S	-	2	0	KRT4	51488873	0.954000	0.32549	0.007000	0.13788	0.290000	0.27261	1.644000	0.37228	0.329000	0.23460	0.655000	0.94253	AGC		TCGA-HZ-7919-01A-11D-2154-08	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	1	0	1	87	363	0	75	1	8.156212e-01	12	3	0	75	2		0	0	0	0	0	2	1	1.000000	87	361	0	75	2								-20.000000	1	0	0	0		1	1	2	3	2.087795	0	0.400000	1.870000	0.405941	0.970000	0.790000	1.000000	1.000000	0.953336	0.970000	1	0.880000	1.000000
PRIM1	5557	broad.mit.edu	37	12	57144844	57144844	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:57144844A>G	ENST00000338193.6	-	2	275	c.239T>C	c.(238-240)aTa>aCa	p.I80T	HSD17B6_ENST00000554150.1_5'Flank|HSD17B6_ENST00000555805.1_5'Flank|HSD17B6_ENST00000554643.1_5'Flank|HSD17B6_ENST00000555159.1_5'Flank|PRIM1_ENST00000552408.1_5'UTR	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)			8					TACTGCGCCTATATCAATCTT	0.328000																								0							SO:0001583	missense			ENST00000338193.6	0	1	hg19	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350526	0.82132	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.55052	0.54;0.6	5.16	5.16	0.70880	.	0.049442	0.85682	D	0.000000	T	0.77532	0.4144	M	0.92880	3.355	0.80722	D	1	D;D	0.65815	0.995;0.971	D;P	0.69142	0.962;0.821	T	0.82989	-0.0183	10	0.59425	D	0.04	-11.0372	14.3283	0.66534	1.0:0.0:0.0:0.0	.	80;80	F8VSB2;P49642	.;PRI1_HUMAN	T	80;80;83	ENSP00000350491:I80T;ENSP00000450185:I83T	ENSP00000350491:I80T	I	-	2	0	PRIM1	55431111	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	8.801000	0.91905	2.100000	0.63781	0.454000	0.30748	ATA		TCGA-HZ-7919-01A-11D-2154-08	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	1	0	0	11	62	0	8	1	8.825210e-01	9	15	0	8	2		0	0	0	0	0	2	1	0.998774	11	62	0	8	2								-19.767750	1	1	0	0		1	1	2	3	2.087795	0	0.400000	1.870000	0.405941	0.780000	0.420000	1.000000	1.000000	0.780151	0.780000	0	0.580000	1.000000
CD163L1	283316	broad.mit.edu	37	12	7531847	7531847	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:7531847C>A	ENST00000313599.3	-	9	2155	c.2098G>T	c.(2098-2100)Gct>Tct	p.A700S	CD163L1_ENST00000396630.1_Missense_Mutation_p.A700S|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.A710S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1			96					ACTTTTCCAGCACACCTGCTG	0.463000																								0							SO:0001583	missense			ENST00000313599.3	0	1	hg19	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100219	0.56183	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34667	1.35;1.35;1.35	2.79	1.87	0.25490	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.483859	0.14903	U	0.291704	T	0.29976	0.0750	N	0.17922	0.545	0.23331	N	0.997896	P;D	0.55605	0.926;0.972	P;P	0.57152	0.73;0.814	T	0.11891	-1.0569	10	0.10636	T	0.68	.	6.9468	0.24522	0.0:0.8482:0.0:0.1518	.	710;700	E7EVK4;Q9NR16	.;C163B_HUMAN	S	700;710;700	ENSP00000315945:A700S;ENSP00000393474:A710S;ENSP00000379871:A700S	ENSP00000315945:A700S	A	-	1	0	CD163L1	7423114	0.103000	0.21917	0.599000	0.28851	0.548000	0.35241	-0.006000	0.12833	1.492000	0.48499	0.455000	0.32223	GCT		TCGA-HZ-7919-01A-11D-2154-08	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	0	0	0	8	286	0	41	0	2.995674e-03	0	3	0	41	2		0	0	0	0	0	2	1	0.989336	8	284	0	41	2								-3.643158	1	1	0	0		1	0	1	1	1.673073	1	0.400000	1.870000	0.257426	0.110000	0.050000	0.200000	0.110000	0.121636	0.110000	0	0.070000	0.160000
GPR12	2835	broad.mit.edu	37	13	27333003	27333003	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr13:27333003G>A	ENST00000381436.2	-	1	1424	c.962C>T	c.(961-963)cCg>cTg	p.P321L	GPR12_ENST00000405846.3_Missense_Mutation_p.P321L			P47775	GPR12_HUMAN	G protein-coupled receptor 12			33	Colorectal(5;5.77e-05)	Breast(139;0.198)			GAGACTGGACGGGATGCAGCC	0.557000																								0							SO:0001583	missense			ENST00000381436.2	0	1	hg19	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896130	0.72639	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.36157	1.27;1.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	L	0.58101	1.795	0.80722	D	1	D	0.53885	0.963	B	0.43082	0.407	T	0.44787	-0.9305	10	0.62326	D	0.03	.	19.3487	0.94376	0.0:0.0:1.0:0.0	.	321	P47775	GPR12_HUMAN	L	321	ENSP00000384932:P321L;ENSP00000370844:P321L	ENSP00000370844:P321L	P	-	2	0	GPR12	26231003	1.000000	0.71417	0.819000	0.32651	0.982000	0.71751	9.739000	0.98837	2.594000	0.87642	0.511000	0.50034	CCG		TCGA-HZ-7919-01A-11D-2154-08	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2	0	0	0	8	332	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	0.988792	8	326	0	35	2								-3.127367	1	1	121412	1	26	1	0	2	2	2.034786	1	0.400000	1.870000	0.400000	0.120000	0.050000	0.220000	0.120000	0.130983	0.120000	0	0.080000	0.170000
MDGA2	161357	broad.mit.edu	37	14	47504469	47504469	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr14:47504469A>T	ENST00000399232.2	-	8	1721	c.1357T>A	c.(1357-1359)Ttg>Atg	p.L453M	MDGA2_ENST00000357362.3_Missense_Mutation_p.L224M|MDGA2_ENST00000426342.1_Missense_Mutation_p.L224M|MDGA2_ENST00000439988.3_Missense_Mutation_p.L522M	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2			76					CTGGTGACCAATGGTGATTTT	0.378000																								0							SO:0001583	missense			ENST00000399232.2	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.99|10.99	1.506599|1.506599	0.26949|0.26949	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.68624	.|-0.34;-0.34;-0.34;-0.34	5.52|5.52	1.83|1.83	0.25207|0.25207	.|Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.154328	.|0.28470	.|U	.|0.015227	T|T	0.50171|0.50171	0.1600|0.1600	L|L	0.33710|0.33710	1.025|1.025	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33528	.|0.234;0.416	.|B;B	.|0.35114	.|0.087;0.196	T|T	0.37079|0.37079	-0.9721|-0.9721	5|10	.|0.52906	.|T	.|0.07	.|.	4.4546|4.4546	0.11637|0.11637	0.5216:0.0:0.3346:0.1439|0.5216:0.0:0.3346:0.1439	.|.	.|224;453	.|F6W3S7;Q7Z553	.|.;MDGA2_HUMAN	N|M	227|453;224;522;224	.|ENSP00000400011:L453M;ENSP00000405456:L224M;ENSP00000382178:L522M;ENSP00000349925:L224M	.|ENSP00000349925:L224M	I|L	-|-	2|1	0|2	MDGA2|MDGA2	46574219|46574219	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.971000|0.971000	0.66376|0.66376	1.154000|1.154000	0.31688|0.31688	0.068000|0.068000	0.16574|0.16574	-0.512000|-0.512000	0.04463|0.04463	ATT|TTG		TCGA-HZ-7919-01A-11D-2154-08	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	0	0	0	10	479	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	0.996776	10	474	0	70	2								-3.136223	1	1	0	0		1	0	0	0	2.009772	0	0.400000	1.870000	0.385246	0.100000	0.040000	0.180000	0.100000	0.108970	0.100000	0	0.070000	0.140000
TTLL5	23093	broad.mit.edu	37	14	76330128	76330128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr14:76330128C>T	ENST00000298832.9	+	29	3650	c.3445C>T	c.(3445-3447)Caa>Taa	p.Q1149*	TTLL5_ENST00000557636.1_Nonsense_Mutation_p.Q1164*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.Q700*|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.Q658*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5			50					CTATCAGCTTCAATTTGCCCT	0.522000																								0							SO:0001587	stop_gained			ENST00000298832.9	0	1	hg19	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	43	10.490315	0.99415	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	.	.	.	5.78	5.78	0.91487	.	0.432376	0.27424	N	0.019434	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	14.9992	0.71459	0.1417:0.8583:0.0:0.0	.	.	.	.	X	223;1164;1149;700;700;658	.	ENSP00000286653:Q223X	Q	+	1	0	TTLL5	75399881	0.991000	0.36638	0.999000	0.59377	0.945000	0.59286	2.927000	0.48900	2.894000	0.99253	0.655000	0.94253	CAA		TCGA-HZ-7919-01A-11D-2154-08	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	1	0	1	161	623	0	104	1	9.999535e-01	8	49	0	104	2		0	0	0	0	0	2	1	1.000000	159	608	0	104	2								-20.000000	1	1	0	0		1	0	0	0	2.009772	0	0.400000	1.870000	0.385246	0.990000	0.860000	1.000000	1.000000	0.973715	0.990000	1	0.920000	1.000000
DUOXA2	405753	broad.mit.edu	37	15	45406819	45406819	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:45406819G>A	ENST00000323030.5	+	1	301	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	DUOX2_ENST00000603300.1_5'Flank|DUOX2_ENST00000389039.6_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)			CCTGTGGAACGGCGTACTGCC	0.632000																								0							SO:0001583	missense			ENST00000323030.5	1	1	hg19	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836709	0.71373	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.57752	0.38	4.98	4.06	0.47325	.	0.262703	0.39475	N	0.001347	T	0.54159	0.1841	L	0.32530	0.975	0.46185	D	0.998911	D	0.76494	0.999	P	0.56088	0.791	T	0.56001	-0.8051	10	0.52906	T	0.07	-18.908	12.4824	0.55852	0.0813:0.0:0.9186:0.0	.	6	Q1HG44	DOXA2_HUMAN	S	6	ENSP00000319705:G6S	ENSP00000319705:G6S	G	+	1	0	DUOXA2	43194111	1.000000	0.71417	0.040000	0.18447	0.274000	0.26718	5.890000	0.69774	1.231000	0.43661	0.591000	0.81541	GGC		TCGA-HZ-7919-01A-11D-2154-08	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	1	0	1	43	170	0	27	1	1	107	142	0	27	2		0	0	0	0	0	2	1	1.000000	42	165	0	27	2								-3.493627	1	1	121410	1	33	1	1	2	3	2.059272	0	0.400000	1.870000	0.401198	0.990000	0.750000	1.000000	1.000000	0.954320	0.990000	1	0.870000	1.000000
GLCE	26035	broad.mit.edu	37	15	69553486	69553486	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:69553486A>C	ENST00000261858.2	+	4	875	c.647A>C	c.(646-648)cAg>cCg	p.Q216P	GLCE_ENST00000559420.2_Missense_Mutation_p.Q152P|GLCE_ENST00000559500.1_3'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase			18					CAGATTGCACAGTATGGATTA	0.373000																								0							SO:0001583	missense			ENST00000261858.2	1	1	hg19	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.278449	0.80692	.	.	ENSG00000138604	ENST00000261858	T	0.59502	0.26	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.81942	2.565	0.80722	D	1	D	0.61697	0.99	D	0.70487	0.969	T	0.80238	-0.1465	10	0.87932	D	0	-8.1086	15.2185	0.73288	1.0:0.0:0.0:0.0	.	216	O94923	GLCE_HUMAN	P	216	ENSP00000261858:Q216P	ENSP00000261858:Q216P	Q	+	2	0	GLCE	67340540	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.198000	0.94994	2.265000	0.75225	0.482000	0.46254	CAG		TCGA-HZ-7919-01A-11D-2154-08	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	114	352	0	68	1	9.994562e-01	14	23	0	68	2		0	0	0	0	0	2	1	1.000000	114	348	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.059272	0	0.400000	1.870000	0.401198	0.990000	0.990000	1.000000	1.000000	0.999734	0.990000	1	0.990000	1.000000
THSD4	79875	broad.mit.edu	37	15	71704038	71704038	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:71704038G>A	ENST00000355327.3	+	7	1162	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	THSD4_ENST00000261862.6_Missense_Mutation_p.R343H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4			42					AAAGGCAATCGCAAATGTGAG	0.423000																								0							SO:0001583	missense			ENST00000355327.3	0	1	hg19	CCDS10238.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.95	2.390891	0.42410	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.71817	-0.6;-0.6	5.47	3.37	0.38596	.	0.225081	0.38605	N	0.001633	T	0.54532	0.1864	N	0.13168	0.305	0.27987	N	0.935816	D;B	0.59357	0.985;0.013	P;B	0.49683	0.619;0.003	T	0.51608	-0.8684	10	0.54805	T	0.06	.	2.8813	0.05648	0.2513:0.0:0.5304:0.2183	.	343;343	Q6ZMP0-2;Q6ZMP0	.;THSD4_HUMAN	H	343	ENSP00000347484:R343H;ENSP00000261862:R343H	ENSP00000261862:R343H	R	+	2	0	THSD4	69491092	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	1.507000	0.35758	1.324000	0.45282	-0.142000	0.14014	CGC		TCGA-HZ-7919-01A-11D-2154-08	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	0	0	0	48	191	0	32	1	9.784606e-01	7	19	0	32	2		0	0	0	0	0	2	1	1.000000	48	185	0	32	2								-20.000000	1	1	120904	1	26	1	1	2	3	2.059272	0	0.400000	1.870000	0.401198	0.990000	0.760000	1.000000	1.000000	0.954636	0.990000	1	0.870000	1.000000
ARIH1	25820	broad.mit.edu	37	15	72858942	72858942	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:72858942G>A	ENST00000379887.4	+	8	1264	c.950G>A	c.(949-951)tGt>tAt	p.C317Y		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1			14					CCTGTTAAATGTAAGGTGAGT	0.318000																								0							SO:0001583	missense			ENST00000379887.4	0	1	hg19	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572572	0.86542	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.94280	-3.39	5.27	5.27	0.74061	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.99026	4.405	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.99809	1.1040	10	0.87932	D	0	.	18.9619	0.92680	0.0:0.0:1.0:0.0	.	317	Q9Y4X5	ARI1_HUMAN	Y	317;287	ENSP00000369217:C317Y	ENSP00000299305:C287Y	C	+	2	0	ARIH1	70645996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.204000	0.95041	2.460000	0.83146	0.644000	0.83932	TGT		TCGA-HZ-7919-01A-11D-2154-08	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	0	0	0	11	598	0	80	1	4.380575e-01	4	73	0	80	2		0	0	0	0	0	2	1	0.998291	11	594	0	79	2								-3.096007	1	1	0	0		1	1	2	3	2.059272	0	0.400000	1.870000	0.401198	0.090000	0.040000	0.160000	0.090000	0.098158	0.090000	0	0.060000	0.130000
BNC1	646	broad.mit.edu	37	15	83926674	83926674	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:83926674C>T	ENST00000345382.2	-	5	2590	c.2505G>A	c.(2503-2505)acG>acA	p.T835T	BNC1_ENST00000569704.1_Silent_p.T828T|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1			56					TGTGGACTTGCGTTATTGGGT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000345382.2	1	1	hg19	CCDS10324.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	1	0	1	76	367	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1.000000	76	362	0	87	2								-20.000000	1	1	0	0		1	1	2	3	2.060585	0	0.400000	1.870000	0.401198	0.850000	0.690000	1.000000	1.000000	0.860995	0.850000	1	0.760000	0.950000
AKAP13	11214	broad.mit.edu	37	15	86212982	86212982	+	Silent	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:86212982T>C	ENST00000394518.2	+	14	5117	c.5022T>C	c.(5020-5022)ttT>ttC	p.F1674F	AKAP13_ENST00000361243.2_Silent_p.F1678F|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13			98					AGCAGGGATTTAATTACTGTA	0.348000													Melanoma(94;603 1453 3280 32295 32951)											0							SO:0001819	synonymous_variant			ENST00000394518.2	1	1	hg19	CCDS32319.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	1	0	1	83	392	0	56	1	9.999996e-01	42	59	0	56	2		0	0	0	0	0	2	1	1.000000	82	386	0	56	2								-20.000000	1	1	0	0		1	1	2	3	2.060585	0	0.400000	1.870000	0.401198	0.870000	0.700000	1.000000	1.000000	0.875690	0.870000	1	0.780000	0.970000
ITGAL	3683	broad.mit.edu	37	16	30505643	30505643	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:30505643G>A	ENST00000356798.6	+	12	1504	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	ITGAL_ENST00000358164.5_Missense_Mutation_p.G359R|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)			76				Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCCACAGGGCGGAGGACACTG	0.647000													NSCLC(110;1462 1641 3311 33990 49495)											0							SO:0001583	missense			ENST00000356798.6	1	1	hg19	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671567	0.29693	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.10860	2.83;2.83	5.67	-11.3	0.00108	.	2.121790	0.01509	N	0.017858	T	0.07007	0.0178	L	0.31157	0.91	0.09310	N	1	B;B	0.16802	0.015;0.019	B;B	0.11329	0.004;0.006	T	0.09079	-1.0691	10	0.25751	T	0.34	.	9.7973	0.40742	0.0953:0.1684:0.6527:0.0836	.	359;442	Q96HB1;P20701	.;ITAL_HUMAN	R	442;359	ENSP00000349252:G442R;ENSP00000350886:G359R	ENSP00000349252:G442R	G	+	1	0	ITGAL	30413144	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.357000	0.07651	-2.335000	0.00629	-1.012000	0.02466	GGA		TCGA-HZ-7919-01A-11D-2154-08	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2	1	0	1	147	189	0	56	0	9.705919e-01	0	10	0	56	2		0	0	0	0	0	2	1	1.000000	147	184	0	55	2								-20.000000	1	1	121402	4	34	1	0	2	2	2.076500	1	0.400000	1.870000	0.400000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ZNF174	7727	broad.mit.edu	37	16	3452365	3452365	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:3452365G>A	ENST00000268655.4	+	1	946	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	ZSCAN32_ENST00000439568.2_5'Flank|ZSCAN32_ENST00000304926.3_5'Flank|ZSCAN32_ENST00000396852.4_5'Flank|ZNF174_ENST00000571936.1_Missense_Mutation_p.V121M|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000344823.5_Missense_Mutation_p.V121M|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000572544.1_Missense_Mutation_p.V121M|ZNF174_ENST00000575752.1_Missense_Mutation_p.V121M	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174			12					TGTGACCCTCGTGGAAGATTT	0.498000																								0							SO:0001583	missense			ENST00000268655.4	1	1	hg19	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380339	0.42207	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.07021	3.23;3.23	4.5	4.5	0.54988	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.43747	D	0.000531	T	0.25232	0.0613	M	0.71206	2.165	0.36337	D	0.859256	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.986;0.992;0.973	T	0.03761	-1.1006	10	0.87932	D	0	.	10.9404	0.47270	0.0:0.1892:0.8108:0.0	.	121;121;121	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	M	121	ENSP00000339781:V121M;ENSP00000268655:V121M	ENSP00000268655:V121M	V	+	1	0	ZNF174	3392366	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	3.912000	0.56386	2.790000	0.95986	0.655000	0.94253	GTG		TCGA-HZ-7919-01A-11D-2154-08	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	1	0	0	32	575	0	66	0	2.754438e-01	0	19	0	66	2		0	0	0	0	0	2	1	1.000000	30	571	0	65	2								-6.228818	1	1	0	0		1	0	2	2	2.090281	1	0.400000	1.870000	0.400000	0.260000	0.180000	0.360000	0.260000	0.270253	0.260000	0	0.210000	0.310000
CDH11	1009	broad.mit.edu	37	16	64981819	64981819	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:64981819C>T	ENST00000268603.4	-	13	2693	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.R567H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)			88		Ovarian(137;0.0973)			GATGTCTTTGCGGGGGATAAA	0.488000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)					Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0							SO:0001583	missense			ENST00000268603.4	1	1	hg19	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591103	0.86851	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.78924	-1.22	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91017	0.4854	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	693	P55287	CAD11_HUMAN	H	693;676	ENSP00000268603:R693H	ENSP00000268603:R693H	R	-	2	0	CDH11	63539320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		TCGA-HZ-7919-01A-11D-2154-08	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	1	0	1	290	475	0	116	0	1	0	260	0	116	2		0	0	0	0	0	2	1	1.000000	288	471	0	114	2								-20.000000	1	1	121412	1	32	1	0	2	2	2.051423	1	0.400000	1.870000	0.400000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ST3GAL2	6483	broad.mit.edu	37	16	70415640	70415640	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:70415640G>C	ENST00000393640.4	-	6	3112	c.1005C>G	c.(1003-1005)atC>atG	p.I335M	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.I335M			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2			11		Ovarian(137;0.0694)			CCAGCATGTCGATGATGTGGG	0.667000																								0							SO:0001583	missense			ENST00000393640.4	1	1	hg19	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.248254	0.80024	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.32515	1.45;1.45	6.07	-2.78	0.05859	.	0.042535	0.85682	D	0.000000	T	0.42131	0.1189	M	0.76727	2.345	0.49798	D	0.999827	D	0.63880	0.993	P	0.59487	0.858	T	0.41716	-0.9493	10	0.66056	D	0.02	-32.3009	7.3993	0.26954	0.4899:0.0:0.4023:0.1078	.	335	Q16842	SIA4B_HUMAN	M	335	ENSP00000345477:I335M;ENSP00000377257:I335M	ENSP00000345477:I335M	I	-	3	3	ST3GAL2	68973141	0.170000	0.23016	0.988000	0.46212	0.670000	0.39368	-0.349000	0.07731	-0.283000	0.09115	-0.224000	0.12420	ATC		TCGA-HZ-7919-01A-11D-2154-08	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	1	0	1	137	262	0	47	1	9.312713e-01	4	7	0	47	2		0	0	0	0	0	2	1	1.000000	136	260	0	46	2								-20.000000	1	1	0	0		1	0	2	2	2.051423	1	0.400000	1.870000	0.400000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
MBTPS1	8720	broad.mit.edu	37	16	84120998	84120998	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:84120998T>C	ENST00000343411.3	-	9	1594	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1			41					AAGCGGGCGATGTTATCTTCA	0.408000																								0							SO:0001583	missense			ENST00000343411.3	1	1	hg19	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997441	0.54147	.	.	ENSG00000140943	ENST00000343411	T	0.38887	1.11	5.26	5.26	0.73747	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	N	0.12569	0.235	0.80722	D	1	B	0.34103	0.437	P	0.44422	0.449	T	0.36456	-0.9747	10	0.44086	T	0.13	-27.4813	15.4764	0.75485	0.0:0.0:0.0:1.0	.	367	Q14703	MBTP1_HUMAN	V	367	ENSP00000344223:I367V	ENSP00000344223:I367V	I	-	1	0	MBTPS1	82678499	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.972000	0.88022	2.113000	0.64589	0.460000	0.39030	ATC		TCGA-HZ-7919-01A-11D-2154-08	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	1	0	1	94	362	0	55	1	1	45	159	0	55	2		0	0	0	0	0	2	1	1.000000	93	356	0	55	2								-20.000000	1	1	121412	2	32	1	0	2	2	2.078655	1	0.400000	1.870000	0.400000	0.990000	0.840000	1.000000	1.000000	0.977037	0.990000	1	0.930000	1.000000
FANCA	2175	broad.mit.edu	37	16	89838200	89838200	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:89838200C>T	ENST00000389301.3	-	23	2067	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V	FANCA_ENST00000568369.1_Silent_p.V679V|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A			47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)			TTTCAGAAATCACTGCCACCT	0.527000			D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					yes	Rec		Fanconi anaemia A	16	16q24.3	2175	Fanconi anemia, complementation group A		L	0							SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000389301.3	1	1	hg19	CCDS32515.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1	1	0	1	150	201	0	51	1	9.662978e-01	5	5	0	51	2		0	0	0	0	0	2	1	1.000000	147	201	0	50	2								-20.000000	1	1	0	0		1	0	2	2	2.078655	1	0.400000	1.870000	0.400000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ALDH3A2	224	broad.mit.edu	37	17	19575061	19575061	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr17:19575061G>T	ENST00000176643.6	+	9	1681	c.1235G>T	c.(1234-1236)gGa>gTa	p.G412V	ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.G412V|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.G412V|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.G412V|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.G412V			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2			13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				GCTTATCACGGAAAACATAGT	0.413000																								0							SO:0001583	missense			ENST00000176643.6	1	1	hg19	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	G	41	8.756577	0.98941	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.89123	-2.47;-2.47;-2.47	6.06	6.06	0.98353	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96543	0.8872	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96956	0.9698	10	0.87932	D	0	-23.5621	19.6125	0.95613	0.0:0.0:1.0:0.0	.	412;412	P51648;P51648-2	AL3A2_HUMAN;.	V	412	ENSP00000176643:G412V;ENSP00000378942:G412V;ENSP00000345774:G412V	ENSP00000176643:G412V	G	+	2	0	ALDH3A2	19515653	1.000000	0.71417	0.993000	0.49108	0.773000	0.43773	8.292000	0.89930	2.879000	0.98667	0.650000	0.86243	GGA		TCGA-HZ-7919-01A-11D-2154-08	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1	1	0	1	96	493	0	71	1	1	37	106	0	71	2		0	0	0	0	0	2	1	1.000000	94	488	0	71	2								-20.000000	1	1	0	0		1	1	2	3	2.083920	0	0.400000	1.870000	0.404762	0.820000	0.670000	1.000000	0.820000	0.829754	0.820000	0	0.740000	0.910000
MXRA7	439921	broad.mit.edu	37	17	74681156	74681156	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr17:74681156C>G	ENST00000355797.3	-	3	506	c.498G>C	c.(496-498)caG>caC	p.Q166H	MXRA7_ENST00000592148.1_Missense_Mutation_p.Q209H|MXRA7_ENST00000585519.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000589082.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000375036.2_Missense_Mutation_p.Q166H|MXRA7_ENST00000588114.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000449428.2_Missense_Mutation_p.Q166H	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7			6					CAGCCTACCTCTGCTCCTCCT	0.622000																								0							SO:0001583	missense			ENST00000355797.3	1	1	hg19	CCDS32745.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573895	0.28092	.	.	ENSG00000182534	ENST00000355797;ENST00000449428;ENST00000375036;ENST00000392488	T;T;T	0.35236	1.32;1.32;1.32	5.27	1.74	0.24563	.	0.144210	0.46758	N	0.000267	T	0.21427	0.0516	N	0.25647	0.755	0.22629	N	0.998912	B;B;B	0.25390	0.125;0.063;0.063	B;B;B	0.26202	0.067;0.037;0.037	T	0.13150	-1.0520	10	0.49607	T	0.09	-18.8343	4.6255	0.12476	0.0:0.5361:0.1835:0.2804	.	166;166;166	P84157-2;P84157-3;P84157	.;.;MXRA7_HUMAN	H	166	ENSP00000348050:Q166H;ENSP00000391466:Q166H;ENSP00000364176:Q166H	ENSP00000348050:Q166H	Q	-	3	2	MXRA7	72192751	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.740000	0.26188	0.590000	0.29694	0.462000	0.41574	CAG		TCGA-HZ-7919-01A-11D-2154-08	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	1	0	1	224	721	0	128	1	1	16	333	0	128	2		0	0	0	0	0	2	1	1.000000	222	709	0	127	2								-5.631252	1	1	0	0		1	0	1	1	1.659738	1	0.400000	1.870000	0.250000	0.930000	0.830000	1.000000	0.950000	0.931515	0.930000	1	0.880000	0.980000
RBBP8	5932	broad.mit.edu	37	18	20516852	20516852	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:20516852C>G	ENST00000399722.2	+	2	389	c.38C>G	c.(37-39)tCt>tGt	p.S13C	RBBP8_ENST00000360790.5_Missense_Mutation_p.S13C|RBBP8_ENST00000399725.2_Missense_Mutation_p.S13C|RBBP8_ENST00000327155.5_Missense_Mutation_p.S13C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8			24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)		AGCCCTAACTCTGCAGATACA	0.358000								Homologous recombination																0							SO:0001583	missense			ENST00000399722.2	1	1	hg19	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322656	0.81580	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.45276	1.16;0.9;1.16;0.93;1.16	5.42	5.42	0.78866	.	0.144596	0.48286	D	0.000188	T	0.64450	0.2599	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.67150	-0.5743	10	0.87932	D	0	-13.2429	17.4189	0.87508	0.0:1.0:0.0:0.0	.	13;13;13	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	C	13	ENSP00000323050:S13C;ENSP00000382630:S13C;ENSP00000382628:S13C;ENSP00000382627:S13C;ENSP00000354024:S13C	ENSP00000323050:S13C	S	+	2	0	RBBP8	18770850	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.710000	0.54860	2.525000	0.85131	0.655000	0.94253	TCT		TCGA-HZ-7919-01A-11D-2154-08	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	1	0	1	289	582	0	98	1	1	33	42	0	98	2		0	0	0	0	0	2	1	1.000000	285	579	0	98	2								-19.997520	1	1	0	0		1	1	2	3	2.499969	1	0.400000	1.870000	0.500000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
FHOD3	80206	broad.mit.edu	37	18	34289290	34289290	+	Silent	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:34289290G>A	ENST00000359247.4	+	14	1893	c.1893G>A	c.(1891-1893)tcG>tcA	p.S631S	FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Silent_p.S823S|FHOD3_ENST00000445677.1_Silent_p.S610S|FHOD3_ENST00000257209.4_Silent_p.S648S	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3			90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)			CCAGCGTCTCGTCCTCCAGCA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000359247.4	1	1	hg19																																																																																					TCGA-HZ-7919-01A-11D-2154-08	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	0	0	0	9	253	0	28	1	1.643716e-01	3	16	0	28	2		0	0	0	0	0	2	1	0.994246	9	251	0	27	2								-10.260900	1	1	121412	1	34	1	0	1	1	1.689471	1	0.400000	1.870000	0.253731	0.140000	0.060000	0.250000	0.140000	0.150569	0.140000	0	0.090000	0.190000
SMAD4	4089	broad.mit.edu	37	18	48604787	48604787	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:48604787G>C	ENST00000342988.3	+	12	2147	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	SMAD4_ENST00000588745.1_Missense_Mutation_p.D441H|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.D537H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.D537Y(3)|p.?(2)|p.L536fs*11(1)|p.L536fs*14(1)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			CCAGCTCCTAGACGAAGTACT	0.488000																								43	Whole gene deletion(36)|Substitution - Missense(3)|Deletion - Frameshift(2)|Unknown(2)						SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921809	0.73213	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98075	-4.7;-4.7	6.07	6.07	0.98685	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99323	1.0907	10	0.87932	D	0	.	19.4308	0.94765	0.0:0.0:1.0:0.0	.	537	Q13485	SMAD4_HUMAN	H	537	ENSP00000341551:D537H;ENSP00000381452:D537H	ENSP00000341551:D537H	D	+	1	0	SMAD4	46858785	1.000000	0.71417	0.972000	0.41901	0.957000	0.61999	9.633000	0.98432	2.885000	0.99019	0.655000	0.94253	GAC		TCGA-HZ-7919-01A-11D-2154-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	98	308	0	78	1	1	29	71	0	78	2	1	1	84	317	0	341	2	1	1.000000	97	307	0	77	2								-4.948732	1	1	0	0		1	0	1	1	1.689471	1	0.400000	1.870000	0.253731	0.930000	0.790000	1.000000	1.000000	0.930178	0.930000	1	0.860000	0.990000
SH3GL1	6455	broad.mit.edu	37	19	4364084	4364084	+	Splice_Site	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:4364084C>T	ENST00000269886.3	-	5	644		c.e5+1		AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Splice_Site|SH3GL1_ENST00000417295.2_Splice_Site	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1			26					AGGAGCAGCACCTGGATCTCC	0.647000			T	MLL	AL								NSCLC(94;1152 2133 30346 33362)		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0							SO:0001630	splice_region_variant			ENST00000269886.3	1	1	hg19	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.212855	0.79352	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2215	0.86958	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SH3GL1	4315084	1.000000	0.71417	0.994000	0.49952	0.761000	0.43186	7.773000	0.85462	2.315000	0.78130	0.561000	0.74099	.		TCGA-HZ-7919-01A-11D-2154-08	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	1	0	1	45	177	0	36	1	4.365776e-01	6	1	0	36	2		0	0	0	0	0	2	1	1.000000	45	176	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.071686	0	0.400000	1.870000	0.402390	0.990000	0.760000	1.000000	1.000000	0.958266	0.990000	1	0.880000	1.000000
LMTK3	114783	broad.mit.edu	37	19	49000674	49000674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:49000674G>A	ENST00000600059.1	-	11	3879	c.3652C>T	c.(3652-3654)Cag>Tag	p.Q1218*	LMTK3_ENST00000270238.3_Nonsense_Mutation_p.Q1247*			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3			16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)			CTGTTCCCCTGAGGGGGTCCC	0.662000																								0							SO:0001587	stop_gained			ENST00000600059.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	42	9.180309	0.99091	.	.	ENSG00000142235	ENST00000270238	.	.	.	3.8	3.8	0.43715	.	0.399027	0.19919	N	0.103125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	11.3704	0.49696	0.0:0.0:1.0:0.0	.	.	.	.	X	1247	.	ENSP00000270238:Q1247X	Q	-	1	0	LMTK3	53692486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.540000	0.45727	2.134000	0.65973	0.563000	0.77884	CAG		TCGA-HZ-7919-01A-11D-2154-08	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	1	0	1	83	386	0	65	1	2.918281e-01	2	4	0	65	2		0	0	0	0	0	2	1	1.000000	83	382	0	64	2								-3.370307	1	1	0	0		1	1	2	3	2.099785	0	0.400000	1.870000	0.407115	0.890000	0.720000	1.000000	1.000000	0.898291	0.890000	1	0.800000	1.000000
SPHK2	56848	broad.mit.edu	37	19	49129495	49129495	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:49129495C>T	ENST00000245222.4	+	3	753	c.387C>T	c.(385-387)cgC>cgT	p.R129R	SPHK2_ENST00000600537.1_Silent_p.R70R|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599748.1_Silent_p.R93R|AC022154.7_ENST00000594850.1_RNA|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000443164.1_Silent_p.R191R|SPHK2_ENST00000599029.1_Silent_p.R93R|SPHK2_ENST00000601712.1_Silent_p.R93R|SPHK2_ENST00000598088.1_Silent_p.R129R|SPHK2_ENST00000340932.3_Silent_p.R93R	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2			19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)			gggcccggcgcAGAGCCACTC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000245222.4	1	1	hg19	CCDS12727.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1	1	0	1	37	98	0	10	0	0	1	0	0	10	2		0	0	0	0	0	2	1	1.000000	35	97	0	10	2								-20.000000	1	1	0	0		1	1	2	3	2.099785	0	0.400000	1.870000	0.407115	0.990000	0.990000	1.000000	1.000000	0.999139	0.990000	1	0.990000	1.000000
PALMD	54873	broad.mit.edu	37	1	100111897	100111897	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:100111897G>C	ENST00000263174.4	+	1	399	c.24G>C	c.(22-24)aaG>aaC	p.K8N	PALMD_ENST00000605497.1_Missense_Mutation_p.K8N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin			31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)			AGCTGGTGAAGGGAAGACTCC	0.517000																								0							SO:0001583	missense			ENST00000263174.4	1	1	hg19	CCDS758.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631881	0.46944	.	.	ENSG00000099260	ENST00000263174	T	0.22945	1.93	5.52	3.66	0.41972	.	0.171232	0.49916	D	0.000127	T	0.23133	0.0559	L	0.59436	1.845	0.53005	D	0.999967	D	0.54047	0.964	P	0.52672	0.706	T	0.02603	-1.1135	10	0.87932	D	0	-11.1216	9.9661	0.41725	0.2732:0.0:0.7268:0.0	.	8	Q9NP74	PALMD_HUMAN	N	8	ENSP00000263174:K8N	ENSP00000263174:K8N	K	+	3	2	PALMD	99884485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.717000	0.47227	0.702000	0.31825	0.561000	0.74099	AAG		TCGA-HZ-7919-01A-11D-2154-08	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	1	0	1	94	551	0	76	0	8.820106e-01	0	24	0	76	2		0	0	0	0	0	2	1	1.000000	92	545	0	75	2								-2.402428	0	1	0	0		1	1	2	3	2.095766	0	0.400000	1.870000	0.407115	0.730000	0.600000	1.000000	0.740000	0.753436	0.730000	0	0.660000	0.830000
KIF1B	23095	broad.mit.edu	37	1	10425167	10425167	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425167G>C	ENST00000377086.1	+	42	4578	c.4376G>C	c.(4375-4377)aGa>aCa	p.R1459T	KIF1B_ENST00000377081.1_Missense_Mutation_p.R1459T|KIF1B_ENST00000263934.6_Missense_Mutation_p.R1413T			O60333	KIF1B_HUMAN	kinesin family member 1B			71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			GGTATGCAGAGAAGGAGAAGA	0.393000																								0							SO:0001583	missense			ENST00000377086.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	28.4	4.919984	0.92249	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.77620	-1.01;-1.11;-1.11	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.991;1.0;0.981	D;D;D;D;D;D	0.85130	0.997;0.996;0.996;0.992;0.997;0.943	D	0.88273	0.2931	10	0.87932	D	0	.	18.9755	0.92735	0.0:0.0:1.0:0.0	.	1445;1419;1459;1433;1459;1413	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	T	1459;1413;1459;1459	ENSP00000263934:R1413T;ENSP00000366290:R1459T;ENSP00000366284:R1459T	ENSP00000263934:R1413T	R	+	2	0	KIF1B	10347754	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.458000	0.83093	0.650000	0.86243	AGA		TCGA-HZ-7919-01A-11D-2154-08	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	1	0	1	44	274	0	35	1	8.446035e-01	5	18	0	35	2		0	0	0	0	0	2	1	1.000000	41	269	0	35	2								-20.000000	1	0	0	0		1	1	2	3	2.106042	0	0.400000	1.870000	0.408284	0.700000	0.520000	1.000000	0.700000	0.725801	0.700000	0	0.610000	0.830000
KIF1B	23095	broad.mit.edu	37	1	10425187	10425187	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425187G>C	ENST00000377086.1	+	42	4598	c.4396G>C	c.(4396-4398)Gat>Cat	p.D1466H	KIF1B_ENST00000377081.1_Missense_Mutation_p.D1466H|KIF1B_ENST00000263934.6_Missense_Mutation_p.D1420H			O60333	KIF1B_HUMAN	kinesin family member 1B			71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			AAAAATCTTAGATACGTCAGT	0.448000																								0							SO:0001583	missense			ENST00000377086.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	27.4	4.828534	0.90955	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.80393	-1.27;-1.36;-1.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.996	D	0.90856	0.4735	10	0.87932	D	0	.	18.9755	0.92735	0.0:0.0:1.0:0.0	.	1452;1426;1466;1440;1466;1420	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	1466;1420;1466;1466	ENSP00000263934:D1420H;ENSP00000366290:D1466H;ENSP00000366284:D1466H	ENSP00000263934:D1420H	D	+	1	0	KIF1B	10347774	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	9.869000	0.99810	2.458000	0.83093	0.650000	0.86243	GAT		TCGA-HZ-7919-01A-11D-2154-08	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	1	0	1	54	313	0	36	0	7.375224e-01	1	16	0	36	2		0	0	0	0	0	2	1	1.000000	51	308	0	36	2								-20.000000	1	0	0	0		1	1	2	3	2.106042	0	0.400000	1.870000	0.408284	0.750000	0.570000	1.000000	0.740000	0.766273	0.750000	0	0.650000	0.870000
KIF1B	23095	broad.mit.edu	37	1	10425500	10425500	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425500G>A	ENST00000377086.1	+	43	4748	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K	KIF1B_ENST00000377081.1_Missense_Mutation_p.E1516K|KIF1B_ENST00000263934.6_Missense_Mutation_p.E1470K			O60333	KIF1B_HUMAN	kinesin family member 1B			71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			GCTGCTGCGTGAGAGACTTGG	0.507000																								0							SO:0001583	missense			ENST00000377086.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	25.9	4.685715	0.88639	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.74106	-0.74;-0.81;-0.81	5.48	5.48	0.80851	.	0.109676	0.64402	D	0.000010	D	0.84880	0.5570	M	0.67397	2.05	0.80722	D	1	P;P;P;D;P;B	0.65815	0.627;0.954;0.485;0.995;0.856;0.241	B;P;B;D;B;B	0.67548	0.242;0.541;0.146;0.952;0.193;0.051	D	0.83946	0.0314	10	0.42905	T	0.14	.	19.3772	0.94517	0.0:0.0:1.0:0.0	.	1502;1476;1516;1490;1516;1470	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	K	1516;1470;1516;1516	ENSP00000263934:E1470K;ENSP00000366290:E1516K;ENSP00000366284:E1516K	ENSP00000263934:E1470K	E	+	1	0	KIF1B	10348087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.861000	0.99562	2.560000	0.86352	0.650000	0.86243	GAG		TCGA-HZ-7919-01A-11D-2154-08	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	1	0	1	69	290	0	51	1	9.943889e-01	5	31	0	51	2		0	0	0	0	0	2	1	1.000000	60	254	0	49	2								-3.347118	1	1	0	0		1	1	2	3	2.106042	0	0.400000	1.870000	0.408284	0.970000	0.770000	1.000000	1.000000	0.949555	0.970000	1	0.870000	1.000000
ANGPTL7	10218	broad.mit.edu	37	1	11252354	11252354	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:11252354A>G	ENST00000376819.3	+	2	643	c.404A>G	c.(403-405)tAc>tGc	p.Y135C	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7			10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)			TCTTCCCTCTACCAGAAGAAC	0.502000																								0							SO:0001583	missense			ENST00000376819.3	1	1	hg19	CCDS128.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304749	0.81247	.	.	ENSG00000171819	ENST00000376819	T	0.77358	-1.09	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.162445	0.56097	D	0.000024	D	0.87075	0.6087	M	0.80508	2.5	0.54753	D	0.999986	D	0.69078	0.997	D	0.68353	0.957	D	0.87855	0.2660	10	0.54805	T	0.06	.	11.8437	0.52371	0.8695:0.0:0.0:0.1305	.	135	O43827	ANGL7_HUMAN	C	135	ENSP00000366015:Y135C	ENSP00000366015:Y135C	Y	+	2	0	ANGPTL7	11174941	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.667000	0.68067	2.371000	0.80710	0.533000	0.62120	TAC		TCGA-HZ-7919-01A-11D-2154-08	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	1	0	1	124	461	0	106	0	1.172165e-01	0	3	0	106	2		0	0	0	0	0	2	1	1.000000	123	458	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.106042	0	0.400000	1.870000	0.408284	0.990000	0.910000	1.000000	1.000000	0.992217	0.990000	1	0.980000	1.000000
RSBN1	54665	broad.mit.edu	37	1	114340098	114340098	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:114340098G>C	ENST00000261441.5	-	2	1327	c.1264C>G	c.(1264-1266)Ctc>Gtc	p.L422V		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1			29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)			AAGTCTGGGAGATAAGCAGCC	0.393000																								0							SO:0001583	missense			ENST00000261441.5	1	1	hg19	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586901	0.46110	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.81802	2.56	0.58432	D	0.999999	D	0.67145	0.996	D	0.75484	0.986	T	0.77490	-0.2568	9	0.87932	D	0	-8.013	10.3789	0.44099	0.1484:0.0:0.8516:0.0	.	422	Q5VWQ0	RSBN1_HUMAN	V	422	.	ENSP00000261441:L422V	L	-	1	0	RSBN1	114141621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.716000	0.61916	2.824000	0.97209	0.655000	0.94253	CTC		TCGA-HZ-7919-01A-11D-2154-08	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	1	0	1	46	260	0	54	1	9.247564e-01	6	21	0	54	2		0	0	0	0	0	2	1	1.000000	46	255	0	54	2								-20.000000	1	1	0	0		1	1	2	3	2.081241	0	0.400000	1.870000	0.404762	0.760000	0.570000	1.000000	0.750000	0.771509	0.760000	0	0.650000	0.880000
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368398.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated			10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		GCTGGCGGGGTGGTGGAGCCC	0.711000			T	IGH@	B-NHL										Dom	yes		1	1q21	4582	mucin 1, transmembrane		L	0							SO:0001583	missense			ENST00000368395.1	0	1	hg19	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808546	0.16467	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.20200	2.09	2.73	0.35	0.16037	.	2.188600	0.02617	N	0.102742	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	D	0.65815	0.995	D	0.68483	0.958	T	0.17684	-1.0361	10	0.39692	T	0.17	.	3.1844	0.06596	0.0:0.2782:0.2183:0.5034	.	112	P15941	MUC1_HUMAN	P	112	ENSP00000357380:T112P	ENSP00000357380:T112P	T	-	1	0	MUC1	153428423	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.417000	0.07088	0.027000	0.15297	-1.038000	0.02383	ACC		TCGA-HZ-7919-01A-11D-2154-08	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	0	0	0	26	84	2	21	0	9.822628e-01	12	377	2	21	60		0	0	0	0	0	2	1	0.829618	25	80	2	21	20								-2.661886	1	1	120668	181	36	1	1	2	3	2.106713	0	0.400000	1.870000	0.408284	0.990000	0.830000	1.000000	1.000000	0.986776	0.990000	1	0.990000	1.000000
RNPEP	6051	broad.mit.edu	37	1	201966564	201966564	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:201966564C>T	ENST00000295640.4	+	5	1015	c.972C>T	c.(970-972)atC>atT	p.I324I	RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Silent_p.I285I	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)			21					ATGTCATCATCCATGAGATCT	0.547000													GBM(19;39 479 7473 13131 19462)											0							SO:0001819	synonymous_variant			ENST00000295640.4	1	1	hg19	CCDS1418.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	1	0	0	109	503	0	102	1	1	58	162	0	102	2		0	0	0	0	0	2	1	1.000000	109	499	0	101	2								-20.000000	1	0	0	0		1	1	2	3	2.106713	0	0.400000	1.870000	0.408284	0.900000	0.750000	1.000000	1.000000	0.906802	0.900000	1	0.820000	1.000000
RNPEP	6051	broad.mit.edu	37	1	201966573	201966573	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:201966573C>T	ENST00000295640.4	+	5	1024	c.981C>T	c.(979-981)atC>atT	p.I327I	RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Silent_p.I288I	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)			21					TCCATGAGATCTCCCACAGTT	0.542000													GBM(19;39 479 7473 13131 19462)											0							SO:0001819	synonymous_variant			ENST00000295640.4	1	1	hg19	CCDS1418.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	1	0	1	100	508	0	99	1	1	53	160	0	99	2		0	0	0	0	0	2	1	1.000000	100	505	0	98	2								-20.000000	1	0	0	0		1	1	2	3	2.106713	0	0.400000	1.870000	0.408284	0.830000	0.680000	1.000000	0.830000	0.845933	0.830000	0	0.750000	0.930000
BTG2	7832	broad.mit.edu	37	1	203276480	203276480	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:203276480T>G	ENST00000290551.4	+	2	462	c.391T>G	c.(391-393)Tcc>Gcc	p.S131A	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2			9			BRCA - Breast invasive adenocarcinoma(75;0.203)		ACTGGCCGCCTCCTGTGGGCT	0.652000																								0							SO:0001583	missense			ENST00000290551.4	1	1	hg19	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	T	8.763	0.924122	0.18056	.	.	ENSG00000159388	ENST00000290551	T	0.24151	1.87	5.06	3.91	0.45181	.	0.094228	0.45361	D	0.000365	T	0.19248	0.0462	L	0.44542	1.39	0.32156	N	0.58352	B	0.14805	0.011	B	0.16289	0.015	T	0.09164	-1.0687	10	0.38643	T	0.18	-12.5884	6.3092	0.21154	0.0:0.0854:0.1574:0.7572	.	131	P78543	BTG2_HUMAN	A	131	ENSP00000290551:S131A	ENSP00000290551:S131A	S	+	1	0	BTG2	201543103	1.000000	0.71417	0.995000	0.50966	0.423000	0.31445	1.427000	0.34881	1.911000	0.55334	0.260000	0.18958	TCC		TCGA-HZ-7919-01A-11D-2154-08	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	1	0	1	144	479	0	69	1	9.998827e-01	3	43	0	69	2		0	0	0	0	0	2	1	1.000000	142	475	0	68	2								-20.000000	1	1	0	0		1	1	2	3	2.106713	0	0.400000	1.870000	0.408284	0.990000	0.990000	1.000000	1.000000	0.999498	0.990000	1	0.990000	1.000000
MARK1	4139	broad.mit.edu	37	1	220752846	220752846	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:220752846A>C	ENST00000366917.4	+	2	468	c.202A>C	c.(202-204)Aag>Cag	p.K68Q	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000485104.1_3'UTR|MARK1_ENST00000366918.4_Missense_Mutation_p.K68Q					MAP/microtubule affinity-regulating kinase 1			63					AACAATAGGGAAGGGAAATTT	0.433000																								0							SO:0001583	missense			ENST00000366917.4	1	1	hg19	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	A	29.7	5.032418	0.93575	.	.	ENSG00000116141	ENST00000366918;ENST00000366917	T;T	0.65364	1.78;-0.15	5.76	5.76	0.90799	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	0.64516	0.2605	N	0.16567	0.415	0.80722	D	1	P;D;D	0.69078	0.895;0.985;0.997	B;P;P	0.61592	0.313;0.681;0.891	T	0.70622	-0.4821	10	0.87932	D	0	.	16.0789	0.80985	1.0:0.0:0.0:0.0	.	68;68;68	B4DIB3;Q9P0L2;Q9P0L2-3	.;MARK1_HUMAN;.	Q	68	ENSP00000355885:K68Q;ENSP00000355884:K68Q	ENSP00000355884:K68Q	K	+	1	0	MARK1	218819469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.192000	0.70111	0.460000	0.39030	AAG		TCGA-HZ-7919-01A-11D-2154-08	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1	1	0	1	122	356	0	51	0	1.639172e-01	0	3	0	51	2		0	0	0	0	0	2	1	1.000000	121	353	0	50	2								-20.000000	1	1	0	0		1	1	2	3	2.103513	0	0.400000	1.870000	0.408284	0.990000	0.990000	1.000000	1.000000	0.999976	0.990000	1	0.990000	1.000000
CCDC27	148870	broad.mit.edu	37	1	3673402	3673402	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:3673402A>T	ENST00000294600.2	+	4	743	c.659A>T	c.(658-660)cAg>cTg	p.Q220L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27			36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)			GTCGCATCTCAGAGCTGCCTG	0.572000																								0							SO:0001583	missense			ENST00000294600.2	0	1	hg19	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809654	0.31961	.	.	ENSG00000162592	ENST00000294600	T	0.21031	2.03	3.84	1.11	0.20524	.	0.944655	0.08686	N	0.908701	T	0.14570	0.0352	L	0.29908	0.895	0.09310	N	1	P	0.42584	0.784	B	0.40101	0.319	T	0.21484	-1.0244	10	0.66056	D	0.02	-10.1696	3.8496	0.08949	0.5575:0.2248:0.0:0.2177	.	220	Q2M243	CCD27_HUMAN	L	220	ENSP00000294600:Q220L	ENSP00000294600:Q220L	Q	+	2	0	CCDC27	3663262	0.065000	0.20965	0.006000	0.13384	0.246000	0.25737	1.393000	0.34497	0.584000	0.29591	0.260000	0.18958	CAG		TCGA-HZ-7919-01A-11D-2154-08	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	0	0	0	5	223	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	0.937506	5	222	0	25	2								-7.021168	1	0	0	0		1	1	2	3	2.106042	0	0.400000	1.870000	0.408284	0.120000	0.040000	1.000000	0.110000	0.179848	0.120000	0	0.070000	0.200000
RIN2	54453	broad.mit.edu	37	20	19981313	19981313	+	Silent	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr20:19981313C>G	ENST00000255006.6	+	12	2717	c.2568C>G	c.(2566-2568)ctC>ctG	p.L856L	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.L374L	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2			27					GAAAGACCCTCCTTGTGAGAC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000255006.6	1	1	hg19	CCDS56182.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1	1	0	1	135	674	0	111	1	1	30	114	0	111	2		0	0	0	0	0	2	1	1.000000	133	669	0	111	2								-3.225761	1	1	0	0		1	1	2	3	2.055373	0	0.400000	1.870000	0.401198	0.830000	0.700000	0.970000	0.840000	0.838373	0.830000	0	0.760000	0.900000
TOX2	84969	broad.mit.edu	37	20	42694633	42694633	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr20:42694633C>T	ENST00000358131.5	+	6	1396	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	TOX2_ENST00000372999.1_Silent_p.G372G|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.G414G|TOX2_ENST00000423191.2_Silent_p.G372G	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2			26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)		ACGCCCAGGGCGCCCTCCTCA	0.711000																								0							SO:0001819	synonymous_variant			ENST00000358131.5	1	1	hg19	CCDS42875.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	0	45	231	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1.000000	43	225	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.055373	0	0.400000	1.870000	0.401198	0.810000	0.610000	1.000000	1.000000	0.821121	0.810000	0	0.700000	0.930000
COL6A2	1292	broad.mit.edu	37	21	47545202	47545202	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr21:47545202T>A	ENST00000300527.4	+	24	1897	c.1793T>A	c.(1792-1794)gTg>gAg	p.V598E	COL6A2_ENST00000357838.4_Missense_Mutation_p.V598E|COL6A2_ENST00000397763.1_Missense_Mutation_p.V598E|COL6A2_ENST00000310645.5_Missense_Mutation_p.V598E|COL6A2_ENST00000409416.1_Missense_Mutation_p.V598E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2			43	Breast(49;0.245)				ATGACCTACGTGAGGGAGACC	0.687000																								0							SO:0001583	missense			ENST00000300527.4	1	1	hg19	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773717	0.90108	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;T	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-1.12	4.51	4.51	0.55191	.	0.286383	0.35739	N	0.003001	D	0.95551	0.8554	M	0.65498	2.005	0.54753	D	0.999989	D;D;D	0.69078	0.995;0.997;0.994	P;D;P	0.66497	0.841;0.944;0.9	D	0.95952	0.8955	10	0.87932	D	0	-19.3525	13.8316	0.63384	0.0:0.0:0.0:1.0	.	598;598;598	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	E	598;598;598;598;598;139	ENSP00000300527:V598E;ENSP00000350497:V598E;ENSP00000312529:V598E;ENSP00000387115:V598E;ENSP00000380870:V598E;ENSP00000395751:V139E	ENSP00000300527:V598E	V	+	2	0	COL6A2	46369630	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.636000	0.83301	1.683000	0.51011	0.472000	0.43445	GTG		TCGA-HZ-7919-01A-11D-2154-08	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	0	0	0	30	959	0	147	0	9.999976e-01	0	634	0	147	2		0	0	0	0	0	2	1	1.000000	30	943	0	144	2								-19.999730	1	1	0	0		1	0	1	1	1.747637	1	0.400000	1.870000	0.287411	0.120000	0.080000	0.180000	0.130000	0.131362	0.120000	0	0.100000	0.150000
SLC5A1	6523	broad.mit.edu	37	22	32464533	32464533	+	Silent	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr22:32464533C>A	ENST00000266088.4	+	5	673	c.423C>A	c.(421-423)atC>atA	p.I141I	SLC5A1_ENST00000543737.1_Silent_p.I14I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1			37				Canagliflozin(DB08907)	GCCAGCGGATCCAGGTCTACC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000266088.4	1	1	hg19	CCDS13902.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	1	0	1	88	374	0	60	1	1	30	93	0	60	2		0	0	0	0	0	2	1	1.000000	88	370	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.095467	0	0.400000	1.870000	0.407115	0.960000	0.780000	1.000000	1.000000	0.946964	0.960000	1	0.870000	1.000000
ENTHD1	150350	broad.mit.edu	37	22	40257992	40257992	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr22:40257992A>C	ENST00000325157.6	-	3	620	c.370T>G	c.(370-372)Tct>Gct	p.S124A		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1			32	Melanoma(58;0.0749)				ACTTGCTTAGATTTTTCCCGG	0.353000																								0							SO:0001583	missense			ENST00000325157.6	1	1	hg19	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990702	0.35131	.	.	ENSG00000176177	ENST00000325157	T	0.37058	1.22	6.17	5.12	0.69794	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.175744	0.40385	N	0.001101	T	0.17152	0.0412	N	0.01410	-0.885	0.28314	N	0.92253	B	0.30870	0.298	B	0.43728	0.429	T	0.43261	-0.9402	10	0.06099	T	0.92	-9.4664	9.6484	0.39881	0.845:0.0:0.0:0.155	.	124	Q8IYW4	ENTD1_HUMAN	A	124	ENSP00000317431:S124A	ENSP00000317431:S124A	S	-	1	0	ENTHD1	38587938	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	3.170000	0.50816	1.105000	0.41606	0.533000	0.62120	TCT		TCGA-HZ-7919-01A-11D-2154-08	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	1	0	0	7	154	0	31	0	0	0	1	0	31	2		0	0	0	0	0	2	1	0.980479	7	152	0	31	2								-10.173050	1	1	0	0		1	0	1	1	1.658663	1	0.400000	1.870000	0.250000	0.170000	0.070000	0.330000	0.170000	0.192677	0.170000	0	0.120000	0.250000
GREB1	9687	broad.mit.edu	37	2	11742547	11742547	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:11742547C>T	ENST00000381486.2	+	17	2845	c.2545C>T	c.(2545-2547)Cat>Tat	p.H849Y	GREB1_ENST00000234142.5_Missense_Mutation_p.H849Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1			30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				GGACTTATATCATGAAAATAA	0.507000													Ovarian(39;850 945 2785 23371 33093)											0							SO:0001583	missense			ENST00000381486.2	1	1	hg19	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984251	0.53827	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.47869	0.83;0.83;0.83	5.64	5.64	0.86602	.	0.252735	0.39020	N	0.001498	T	0.45155	0.1328	L	0.50333	1.59	0.80722	D	1	B;P	0.40875	0.429;0.731	B;B	0.37091	0.241;0.241	T	0.33777	-0.9855	10	0.29301	T	0.29	-41.315	19.6906	0.95999	0.0:1.0:0.0:0.0	.	483;849	C9JIG0;Q4ZG55	.;GREB1_HUMAN	Y	849;849;483	ENSP00000370896:H849Y;ENSP00000234142:H849Y;ENSP00000403886:H483Y	ENSP00000234142:H849Y	H	+	1	0	GREB1	11659998	1.000000	0.71417	0.113000	0.21522	0.687000	0.40016	5.669000	0.68081	2.649000	0.89929	0.655000	0.94253	CAT		TCGA-HZ-7919-01A-11D-2154-08	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	1	0	1	343	585	0	118	0	0	0	1	0	118	2		0	0	0	0	0	2	1	1.000000	341	581	0	117	2								-20.000000	1	1	0	0		1	0	2	2	2.071645	1	0.400000	1.870000	0.400000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ARHGAP15	55843	broad.mit.edu	37	2	143913143	143913143	+	Silent	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:143913143C>A	ENST00000295095.6	+	2	251	c.84C>A	c.(82-84)atC>atA	p.I28I	ARHGAP15_ENST00000409869.1_Silent_p.I28I	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15			34					AAATGAGAATCAAAAATGCCA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000295095.6	1	1	hg19	CCDS2184.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	0	0	0	10	336	0	39	0	9.291647e-02	0	16	0	39	2		0	0	0	0	0	2	1	0.996288	10	322	0	39	2								-3.103658	1	1	0	0		1	0	2	2	2.071645	1	0.400000	1.870000	0.400000	0.140000	0.070000	0.260000	0.140000	0.157346	0.140000	0	0.100000	0.200000
PLEKHH2	130271	broad.mit.edu	37	2	43965587	43965587	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:43965587G>C	ENST00000282406.4	+	20	3161	c.3051G>C	c.(3049-3051)caG>caC	p.Q1017H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			CTGAGCTGCAGAATGAAATTT	0.393000																								0							SO:0001583	missense			ENST00000282406.4	1	1	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516918	0.64634	.	.	ENSG00000152527	ENST00000282406	D	0.91792	-2.91	5.53	3.74	0.42951	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	M	0.82517	2.595	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94785	0.7957	10	0.87932	D	0	-15.4565	9.9364	0.41554	0.2346:0.0:0.7654:0.0	.	1017;454	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	H	1017	ENSP00000282406:Q1017H	ENSP00000282406:Q1017H	Q	+	3	2	PLEKHH2	43819091	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.416000	0.52707	0.707000	0.31934	0.561000	0.74099	CAG		TCGA-HZ-7919-01A-11D-2154-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	1	0	1	270	418	0	96	1	8.831917e-01	4	4	0	96	2		0	0	0	0	0	2	1	1.000000	267	413	0	96	2								-20.000000	1	1	0	0		1	0	2	2	2.071645	1	0.400000	1.870000	0.400000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
FBXO40	51725	broad.mit.edu	37	3	121345596	121345596	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:121345596G>A	ENST00000338040.4	+	4	2383	c.1969G>A	c.(1969-1971)Gtc>Atc	p.V657I		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40			46					GTTTAATGAAGTCACCTCCAT	0.458000																								0							SO:0001583	missense			ENST00000338040.4	1	1	hg19	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451162	0.43531	.	.	ENSG00000163833	ENST00000338040	T	0.30714	1.52	6.17	5.3	0.74995	F-box domain, Skp2-like (1);	0.244440	0.40144	N	0.001170	T	0.20333	0.0489	L	0.28608	0.87	0.37080	D	0.898954	B	0.31318	0.319	B	0.30105	0.111	T	0.07046	-1.0793	10	0.06494	T	0.89	-14.5867	13.5664	0.61822	0.0747:0.0:0.9253:0.0	.	657	Q9UH90	FBX40_HUMAN	I	657	ENSP00000337510:V657I	ENSP00000337510:V657I	V	+	1	0	FBXO40	122828286	0.692000	0.27719	0.985000	0.45067	0.990000	0.78478	1.954000	0.40362	1.626000	0.50381	0.655000	0.94253	GTC		TCGA-HZ-7919-01A-11D-2154-08	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	0	0	0	25	1119	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1.000000	25	1109	0	138	2								-16.720990	1	1	0	0		1	1	2	3	2.069617	0	0.400000	1.870000	0.402390	0.100000	0.060000	0.170000	0.110000	0.122420	0.100000	0	0.080000	0.140000
ANKRD28	23243	broad.mit.edu	37	3	15718557	15718557	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:15718557C>T	ENST00000399451.2	-	26	3074	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.E936K	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28			6					GCACTAGTTTCATGACCCTAT	0.358000																								0							SO:0001583	missense			ENST00000399451.2	1	1	hg19	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496535	0.96355	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.64991	-0.13;-0.13;-0.13	5.38	5.38	0.77491	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	L	0.35341	1.055	0.80722	D	1	P	0.51791	0.948	P	0.56343	0.796	T	0.55347	-0.8155	10	0.06365	T	0.9	.	19.4958	0.95072	0.0:1.0:0.0:0.0	.	903	O15084	ANR28_HUMAN	K	903;936;903	ENSP00000382379:E903K;ENSP00000373287:E936K;ENSP00000397341:E903K	ENSP00000373287:E936K	E	-	1	0	ANKRD28	15693561	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.647000	0.83462	2.681000	0.91329	0.650000	0.86243	GAA		TCGA-HZ-7919-01A-11D-2154-08	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	1	0	1	78	327	0	49	1	9.999794e-01	25	43	0	49	2		0	0	0	0	0	2	1	1.000000	74	321	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.060951	0	0.400000	1.870000	0.401198	0.960000	0.770000	1.000000	1.000000	0.943102	0.960000	1	0.860000	1.000000
FBXO45	200933	broad.mit.edu	37	3	196311085	196311085	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:196311085G>A	ENST00000311630.6	+	3	1054	c.757G>A	c.(757-759)Gct>Act	p.A253T	FBXO45_ENST00000440469.1_Missense_Mutation_p.A74T	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45			7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		CCTGGGGGTTGCTTTTAGAGG	0.418000																								0							SO:0001583	missense			ENST00000311630.6	1	1	hg19	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629998	0.87660	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T;T	0.60548	0.18;0.18	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82756	-0.0300	10	0.87932	D	0	-10.3492	18.7709	0.91892	0.0:0.0:1.0:0.0	.	253	P0C2W1	FBSP1_HUMAN	T	74;253	ENSP00000389868:A74T;ENSP00000310332:A253T	ENSP00000310332:A253T	A	+	1	0	FBXO45	197795482	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.985000	0.93487	2.740000	0.93945	0.563000	0.77884	GCT		TCGA-HZ-7919-01A-11D-2154-08	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2	1	0	1	73	278	0	55	1	9.703978e-01	8	16	0	55	2		0	0	0	0	0	2	1	1.000000	73	274	0	55	2								-3.792750	1	1	0	0		1	1	2	3	2.069617	0	0.400000	1.870000	0.402390	0.990000	0.830000	1.000000	1.000000	0.977236	0.990000	1	0.930000	1.000000
TRIML1	339976	broad.mit.edu	37	4	189060986	189060986	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:189060986C>A	ENST00000332517.3	+	1	414	c.274C>A	c.(274-276)Cag>Aag	p.Q92K	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1			60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)			CGAGGATGAGCAGGGCAGCTA	0.647000													Melanoma(31;213 1036 16579 23968 32372)											0							SO:0001583	missense			ENST00000332517.3	0	1	hg19	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	3.439	-0.114406	0.06881	.	.	ENSG00000184108	ENST00000332517	T	0.61274	0.12	5.19	3.32	0.38043	.	0.645692	0.13834	N	0.359532	T	0.41465	0.1160	L	0.47716	1.5	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.35822	-0.9773	10	0.05959	T	0.93	-6.5751	5.7084	0.17921	0.1928:0.7101:0.0:0.0971	.	92	Q8N9V2	TRIML_HUMAN	K	92	ENSP00000327738:Q92K	ENSP00000327738:Q92K	Q	+	1	0	TRIML1	189297980	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.461000	0.06712	1.512000	0.48834	0.655000	0.94253	CAG		TCGA-HZ-7919-01A-11D-2154-08	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	0	0	0	12	386	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	0.999106	11	384	0	46	2								-11.973240	1	1	0	0		1	1	2	3	2.075646	0	0.400000	1.870000	0.402390	0.150000	0.080000	0.270000	0.150000	0.170745	0.150000	0	0.110000	0.210000
YIPF7	285525	broad.mit.edu	37	4	44638040	44638040	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:44638040G>A	ENST00000332990.5	-	3	267	c.251C>T	c.(250-252)tCg>tTg	p.S84L	YIPF7_ENST00000415895.4_Missense_Mutation_p.S60L	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7			12					TGCGTAACCCGATGACATGAG	0.408000																								0							SO:0001583	missense			ENST00000332990.5	0	1	hg19	CCDS54766.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207679	0.39003	.	.	ENSG00000177752	ENST00000332990	T	0.32023	1.47	5.02	5.02	0.67125	.	0.477948	0.20853	N	0.084492	T	0.33381	0.0861	L	0.60455	1.87	0.09310	N	1	P;B	0.43750	0.816;0.326	B;B	0.40134	0.32;0.069	T	0.26677	-1.0096	10	0.30078	T	0.28	-9.5458	17.5826	0.87972	0.0:0.0:1.0:0.0	.	84;84	Q8N8F6-4;Q8N8F6	.;YIPF7_HUMAN	L	84	ENSP00000332772:S84L	ENSP00000332772:S84L	S	-	2	0	YIPF7	44332797	0.978000	0.34361	0.165000	0.22776	0.058000	0.15608	2.196000	0.42686	2.636000	0.89361	0.650000	0.86243	TCG		TCGA-HZ-7919-01A-11D-2154-08	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	7	313	0	29	0	0	0	1	0	29	2		0	0	0	0	0	2	1	0.980248	7	310	0	29	2								-3.180670	1	1	120846	1	33	1	1	2	3	2.075646	0	0.400000	1.870000	0.402390	0.110000	0.040000	0.240000	0.110000	0.132720	0.110000	0	0.070000	0.170000
DMP1	1758	broad.mit.edu	37	4	88583249	88583249	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:88583249G>T	ENST00000339673.6	+	6	418	c.319G>T	c.(319-321)Gat>Tat	p.D107Y	RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D91Y|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1			32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)			TGACGATGAAGATGACAGTGG	0.507000																								0							SO:0001583	missense			ENST00000339673.6	0	1	hg19	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677163	0.47886	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.60171	0.21;0.21	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000023	T	0.72479	0.3465	L	0.54323	1.7	0.47862	D	0.99953	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75071	-0.3447	10	0.87932	D	0	-12.8053	16.6154	0.84909	0.0:0.0:1.0:0.0	.	91;107	Q13316-2;Q13316	.;DMP1_HUMAN	Y	107;91	ENSP00000340935:D107Y;ENSP00000282479:D91Y	ENSP00000282479:D91Y	D	+	1	0	DMP1	88802273	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	6.210000	0.72176	2.457000	0.83068	0.455000	0.32223	GAT		TCGA-HZ-7919-01A-11D-2154-08	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1	0	0	0	10	392	0	40		0	0	0	0	40	2		0	0	0	0	0	2	1	0.996847	9	390	0	40	2								-9.761817	1	1	0	0		1	1	2	3	2.075646	0	0.400000	1.870000	0.402390	0.120000	0.060000	0.240000	0.120000	0.144638	0.120000	0	0.090000	0.180000
SLC2A9	56606	broad.mit.edu	37	4	9998478	9998478	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:9998478T>C	ENST00000264784.3	-	3	390	c.337A>G	c.(337-339)Act>Gct	p.T113A	SLC2A9_ENST00000309065.3_Missense_Mutation_p.T84A|SLC2A9_ENST00000506583.1_Missense_Mutation_p.T84A	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9			35				Losartan(DB00678)|Probenecid(DB01032)	ATGGACACAGTCACAGACCAG	0.468000																								0							SO:0001583	missense			ENST00000264784.3	1	1	hg19	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.790410	0.70337	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.79845	0.4;-0.84;0.4;-1.31	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.107675	0.64402	D	0.000007	T	0.81517	0.4839	L	0.33485	1.01	0.40360	D	0.979237	P;P	0.47191	0.891;0.846	P;P	0.59546	0.72;0.859	T	0.80339	-0.1424	9	.	.	.	.	11.9036	0.52697	0.0:0.0:0.0:1.0	.	84;113	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	A	84;113;84;84	ENSP00000422209:T84A;ENSP00000264784:T113A;ENSP00000311383:T84A;ENSP00000426800:T84A	.	T	-	1	0	SLC2A9	9607576	1.000000	0.71417	0.990000	0.47175	0.946000	0.59487	4.346000	0.59367	2.136000	0.66102	0.524000	0.50904	ACT		TCGA-HZ-7919-01A-11D-2154-08	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1	1	0	1	108	395	0	82	0	6.081524e-01	1	8	0	82	2		0	0	0	0	0	2	1	1.000000	107	390	0	82	2								-20.000000	1	1	0	0		1	1	2	3	2.075646	0	0.400000	1.870000	0.402390	0.990000	0.900000	1.000000	1.000000	0.990887	0.990000	1	0.980000	1.000000
PCDHGA6	56109	broad.mit.edu	37	5	140754472	140754472	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr5:140754472C>T	ENST00000517434.1	+	1	822	c.822C>T	c.(820-822)caC>caT	p.H274H	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6			2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AAGGAGTCCACGGGGAAGTAA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000517434.1	1	1	hg19	CCDS54926.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	1	0	1	45	186	0	40	0	0	0	1	0	40	2		0	0	0	0	0	2	1	1.000000	44	186	0	40	2								-3.576604	1	1	120808	1	25	1	0	0	0	2.010940	0	0.400000	1.870000	0.385246	0.940000	0.710000	1.000000	1.000000	0.924625	0.940000	1	0.820000	1.000000
MAST4	375449	broad.mit.edu	37	5	66461307	66461307	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr5:66461307G>C	ENST00000403625.2	+	29	6595	c.6300G>C	c.(6298-6300)gaG>gaC	p.E2100D	MAST4_ENST00000403666.1_Missense_Mutation_p.E1911D|MAST4_ENST00000405643.1_Missense_Mutation_p.E1921D|MAST4_ENST00000404260.3_Missense_Mutation_p.E2103D|MAST4_ENST00000261569.7_Missense_Mutation_p.E1906D	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4			13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)			TTGAGAGTGAGAAGAGTGAAA	0.562000																								0							SO:0001583	missense			ENST00000403625.2	1	1	hg19	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.68|10.68	1.417754|1.417754	0.25552|0.25552	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|T	0.65732|0.04360	-0.15;-0.15;-0.17;-0.17;-0.15|3.64	4.58|4.58	0.327|0.327	0.15913|0.15913	.|.	1.030320|1.030320	0.07702|0.07702	N|N	0.940481|0.940481	T|T	0.03477|0.03477	0.0100|0.0100	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.47911|0.47911	-0.9080|-0.9080	10|8	0.06099|0.30078	T|T	0.92|0.28	-0.9085|-0.9085	3.6607|3.6607	0.08237|0.08237	0.0968:0.4337:0.2813:0.1881|0.0968:0.4337:0.2813:0.1881	.|.	2103;1911|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	D|Q	2103;2100;1911;1921;1921;1906|1157	ENSP00000385048:E2103D;ENSP00000385727:E2100D;ENSP00000384313:E1911D;ENSP00000384099:E1921D;ENSP00000261569:E1906D|ENSP00000400551:E1157Q	ENSP00000261569:E1906D|ENSP00000400551:E1157Q	E|E	+|+	3|1	2|0	MAST4|MAST4	66497063|66497063	0.000000|0.000000	0.05858|0.05858	0.017000|0.017000	0.16124|0.16124	0.605000|0.605000	0.37080|0.37080	-0.771000|-0.771000	0.04699|0.04699	0.151000|0.151000	0.19162|0.19162	-0.145000|-0.145000	0.13849|0.13849	GAG|GAA		TCGA-HZ-7919-01A-11D-2154-08	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	1	0	1	79	319	0	43	1	9.561666e-01	2	21	0	43	2		0	0	0	0	0	2	1	1.000000	78	314	0	43	2								-20.000000	1	1	0	0		1	0	0	0	1.978057	0	0.400000	1.870000	0.375000	0.940000	0.760000	1.000000	1.000000	0.935484	0.940000	1	0.850000	1.000000
TAAR9	134860	broad.mit.edu	37	6	132859638	132859638	+	RNA	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:132859638G>C	ENST00000434551.1	+	0	210					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)				Breast(56;0.112)				CAAACTTTCTGATTGCGTCGC	0.512000													Colon(10;433 445 15992 45047 47213)											0											ENST00000434551.1	1	1	hg19																																																																																					TCGA-HZ-7919-01A-11D-2154-08	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	0	0	0	76	240	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1.000000	75	238	0	51	2								-4.772349	1	1	0	0		1	0	1	1	1.627988	1	0.400000	1.870000	0.250000	0.910000	0.760000	1.000000	0.950000	0.909626	0.910000	1	0.830000	0.980000
DEK	7913	broad.mit.edu	37	6	18258216	18258216	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:18258216G>C	ENST00000397239.3	-	4	772	c.325C>G	c.(325-327)Cta>Gta	p.L109V	DEK_ENST00000244776.7_Missense_Mutation_p.L75V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene			7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		AGTTTGTGTAGATTTCTAAGT	0.333000			T	NUP214	AML										Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0							SO:0001583	missense			ENST00000397239.3	1	1	hg19	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732566	0.69189	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000503715;ENST00000515742	T;T;T;T	0.75938	-0.98;-0.85;-0.19;-0.5	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	L	0.59436	1.845	0.44000	D	0.996703	D;D	0.54772	0.968;0.968	D;D	0.70716	0.97;0.97	T	0.79976	-0.1576	10	0.52906	T	0.07	-12.7977	11.3849	0.49778	0.1365:0.0:0.8635:0.0	.	75;109	B4DN37;P35659	.;DEK_HUMAN	V	109;75;42;114	ENSP00000380414:L109V;ENSP00000244776:L75V;ENSP00000425399:L42V;ENSP00000423553:L114V	ENSP00000244776:L75V	L	-	1	2	DEK	18366195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.999000	0.57031	1.631000	0.50456	0.655000	0.94253	CTA		TCGA-HZ-7919-01A-11D-2154-08	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4	1	0	1	37	150	0	41	1	1	83	78	0	41	2		0	0	0	0	0	2	1	1.000000	37	150	0	41	2								-20.000000	1	1	0	0		1	0	1	1	1.579168	1	0.400000	1.870000	0.250000	0.770000	0.570000	0.960000	0.780000	0.780847	0.770000	0	0.660000	0.890000
C6orf195	154386	broad.mit.edu	37	6	2624100	2624100	+	Translation_Start_Site	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:2624100G>C	ENST00000296847.3	-	0	480					NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195			5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			TTCTTATGTTGATTCTTCTAT	0.418000																								0											ENST00000296847.3	0	1	hg19	CCDS43416.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039633.1	0	0	0	36	107	0	27	0	0	0	1	0	27	2		0	0	0	0	0	2	1	1.000000	36	107	0	27	2								-20.000000	1	1	0	0		1	0	1	1	1.579168	1	0.400000	1.870000	0.250000	0.900000	0.700000	1.000000	0.990000	0.892432	0.900000	1	0.800000	0.970000
UBR2	23304	broad.mit.edu	37	6	42541728	42541728	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:42541728G>C	ENST00000372899.1	+	2	593	c.335G>C	c.(334-336)tGc>tCc	p.C112S	UBR2_ENST00000372903.2_Missense_Mutation_p.C112S|UBR2_ENST00000372901.1_Missense_Mutation_p.C112S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2			64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		ACATATTCTTGCAGGTAAAAT	0.328000																								0							SO:0001583	missense			ENST00000372899.1	1	1	hg19	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843827	0.91197	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	D;D;D	0.97553	-4.43;-4.43;-4.43	5.68	5.68	0.88126	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.045834	0.85682	D	0.000000	D	0.99233	0.9733	H	0.97962	4.115	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.995	D	0.98951	1.0794	10	0.87932	D	0	-3.8635	19.7873	0.96444	0.0:0.0:1.0:0.0	.	112;112	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	S	112	ENSP00000361994:C112S;ENSP00000361990:C112S;ENSP00000361992:C112S	ENSP00000361990:C112S	C	+	2	0	UBR2	42649706	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.673000	0.90976	0.655000	0.94253	TGC		TCGA-HZ-7919-01A-11D-2154-08	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	1	0	0	13	284	0	55	0	3.080939e-01	1	23	0	55	2		0	0	0	0	0	2	1	0.999544	12	283	0	55	2								-14.531040	1	1	0	0		1	0	1	1	1.627988	1	0.400000	1.870000	0.250000	0.170000	0.090000	0.280000	0.170000	0.185399	0.170000	0	0.130000	0.230000
EPHB4	2050	broad.mit.edu	37	7	100414848	100414848	+	Silent	SNP	G	G	A	rs148818692		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:100414848G>A	ENST00000358173.3	-	8	2022	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	EPHB4_ENST00000360620.3_Silent_p.F518F|EPHB4_ENST00000477446.1_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4			47	Lung NSC(181;0.041)|all_lung(186;0.0581)				GTTCCTGGCCGAAGGGCCCGT	0.652000													GBM(200;2113 3072 25865 52728)											0							SO:0001819	synonymous_variant			ENST00000358173.3	1	0	hg19	CCDS5706.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	1	0	0	33	103	0	15	1	9.996739e-01	16	27	0	15	2		0	0	0	0	0	2	1	1.000000	33	103	0	14	2								-20.000000	1	0	121354	7	35	1	1	2	3	2.064848	0	0.400000	1.870000	0.401198	0.990000	0.870000	1.000000	1.000000	0.991735	0.990000	1	0.990000	1.000000
PKD1L1	168507	broad.mit.edu	37	7	47869028	47869028	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:47869028C>G	ENST00000289672.2	-	44	6780	c.6730G>C	c.(6730-6732)Gaa>Caa	p.E2244Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1		BBS9/PKD1L1(2)	142					TTTACTTTTTCAACCTCGCCT	0.408000																								0							SO:0001583	missense			ENST00000289672.2	1	1	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247339	0.39697	.	.	ENSG00000158683	ENST00000289672	T	0.20200	2.09	4.11	3.2	0.36748	.	1.614660	0.03691	N	0.247120	T	0.27933	0.0688	L	0.59436	1.845	0.09310	N	1	P	0.51933	0.949	B	0.43331	0.416	T	0.24584	-1.0156	10	0.44086	T	0.13	-3.216	9.4856	0.38928	0.0:0.7832:0.2168:0.0	.	2244	Q8TDX9	PK1L1_HUMAN	Q	2244	ENSP00000289672:E2244Q	ENSP00000289672:E2244Q	E	-	1	0	PKD1L1	47835553	0.006000	0.16342	0.026000	0.17262	0.179000	0.23085	1.491000	0.35583	0.905000	0.36596	0.563000	0.77884	GAA		TCGA-HZ-7919-01A-11D-2154-08	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	1	0	0	108	386	0	68	0	0	0	1	0	68	2		0	0	0	0	0	2	1	1.000000	107	383	0	68	2								-20.000000	1	1	0	0		1	0	0	0	2.052918	0	0.400000	1.870000	0.400000	0.990000	0.910000	1.000000	1.000000	0.993129	0.990000	1	0.990000	1.000000
ZNF789	285989	broad.mit.edu	37	7	99084963	99084963	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:99084963C>T	ENST00000331410.5	+	5	1400	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789			11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)				TGTGGGAAAACGTTTAGTTTT	0.403000																								0							SO:0001583	missense			ENST00000331410.5	0	1	hg19	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	C	2.833	-0.242182	0.05906	.	.	ENSG00000198556	ENST00000331410	T	0.21031	2.03	2.89	1.98	0.26296	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29684	0.0741	L	0.60455	1.87	0.19300	N	0.99998	D	0.76494	0.999	P	0.54815	0.761	T	0.09250	-1.0683	9	0.66056	D	0.02	.	5.4818	0.16727	0.2327:0.5406:0.2266:0.0	.	377	Q5FWF6	ZN789_HUMAN	M	377	ENSP00000331927:T377M	ENSP00000331927:T377M	T	+	2	0	ZNF789	98922899	0.000000	0.05858	0.232000	0.24009	0.029000	0.11900	0.055000	0.14229	0.774000	0.33427	-0.188000	0.12872	ACG		TCGA-HZ-7919-01A-11D-2154-08	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	0	0	0	17	935	1	125	0	2.499246e-02	1	12	1	125	2		0	0	0	0	0	2	1	0.999962	17	930	0	122	2								-2.926437	1	1	121412	2	35	1	1	2	3	2.064848	0	0.400000	1.870000	0.401198	0.080000	0.040000	0.140000	0.090000	0.094383	0.080000	0	0.060000	0.120000
FAM135B	51059	broad.mit.edu	37	8	139180258	139180258	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr8:139180258G>A	ENST00000395297.1	-	12	1308	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B			238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)		TCCGAGTTCCGGATATCCAGG	0.597000										HNSCC(54;0.14)														0							SO:0001583	missense			ENST00000395297.1	1	1	hg19	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644994	0.67358	.	.	ENSG00000147724	ENST00000395297	D	0.90676	-2.71	5.66	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	M	0.80982	2.52	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95690	0.8739	10	0.87932	D	0	-19.8469	14.775	0.69724	0.0:0.0:0.8544:0.1456	.	380	Q49AJ0	F135B_HUMAN	W	380	ENSP00000378710:R380W	ENSP00000276737:R380W	R	-	1	2	FAM135B	139249440	1.000000	0.71417	0.858000	0.33744	0.238000	0.25445	3.644000	0.54381	1.460000	0.47911	0.655000	0.94253	CGG		TCGA-HZ-7919-01A-11D-2154-08	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	0	0	0	21	721	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	0.999997	21	710	0	93	2								-2.527257	1	1	121082	2	35	1	1	2	3	2.062111	0	0.400000	1.870000	0.401198	0.140000	0.080000	0.220000	0.140000	0.147846	0.140000	0	0.110000	0.180000
SPTAN1	6709	broad.mit.edu	37	9	131386635	131386635	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:131386635C>G	ENST00000372731.4	+	45	5956	c.5846C>G	c.(5845-5847)tCa>tGa	p.S1949*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.S1954*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.S1954*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1			87					AACATCTCTTCAAAGATGAAG	0.527000													NSCLC(120;833 1744 2558 35612 37579)											0							SO:0001587	stop_gained			ENST00000372731.4	0	1	hg19	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	46	12.783765	0.99696	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	.	.	.	5.23	4.32	0.51571	.	0.166830	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.3956	0.67007	0.0:0.9275:0.0:0.0725	.	.	.	.	X	1954;1949;1954;1929;198	.	ENSP00000350882:S1954X	S	+	2	0	SPTAN1	130426456	1.000000	0.71417	0.563000	0.28383	0.993000	0.82548	5.710000	0.68392	1.317000	0.45149	0.655000	0.94253	TCA		TCGA-HZ-7919-01A-11D-2154-08	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	1	0	1	55	202	0	43	1	1	14	367	0	43	2		0	0	0	0	0	2	1	1.000000	55	201	0	43	2								-20.000000	1	1	0	0		1	0	1	1	2.052461	0	0.400000	1.870000	0.398798	0.990000	0.820000	1.000000	1.000000	0.978371	0.990000	1	0.940000	1.000000
ZER1	10444	broad.mit.edu	37	9	131513437	131513437	+	Silent	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:131513437G>A	ENST00000291900.2	-	7	1555	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R	snoU13_ENST00000459043.1_RNA|ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator			15					AACGCTCGATGCGGGCGATGT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000291900.2	0	1	hg19	CCDS6910.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	1	0	1	30	109	0	11	1	9.999989e-01	23	64	0	11	2		0	0	0	0	0	2	1	1.000000	30	109	0	11	2								-20.000000	1	1	0	0		1	0	1	1	2.052461	0	0.400000	1.870000	0.398798	0.990000	0.760000	1.000000	1.000000	0.967116	0.990000	1	0.900000	1.000000
MRPS2	51116	broad.mit.edu	37	9	138393703	138393703	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:138393703G>C	ENST00000371785.1	+	4	392	c.183G>C	c.(181-183)aaG>aaC	p.K61N	MRPS2_ENST00000241600.5_Missense_Mutation_p.K61N|C9orf116_ENST00000371789.3_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000429260.2_5'Flank|C9orf116_ENST00000371791.1_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2			6					TCAACGACAAGATTTTGAATG	0.572000																								0							SO:0001583	missense			ENST00000371785.1	1	1	hg19	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266862	0.40095	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.35236	1.81;1.81;1.32	4.7	0.553	0.17235	.	0.218719	0.45361	D	0.000376	T	0.26011	0.0634	L	0.57536	1.79	0.09310	N	1	P	0.44429	0.835	B	0.38378	0.272	T	0.18429	-1.0337	10	0.49607	T	0.09	-5.9199	2.9054	0.05719	0.2189:0.1206:0.5366:0.1239	.	61	Q9Y399	RT02_HUMAN	N	61;61;75	ENSP00000360850:K61N;ENSP00000241600:K61N;ENSP00000400082:K75N	ENSP00000241600:K61N	K	+	3	2	MRPS2	137533524	0.901000	0.30685	0.000000	0.03702	0.160000	0.22226	1.674000	0.37544	-0.203000	0.10251	0.655000	0.94253	AAG		TCGA-HZ-7919-01A-11D-2154-08	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1	1	0	1	114	494	0	89	1	9.999944e-01	17	57	0	89	2		0	0	0	0	0	2	1	1.000000	112	486	0	89	2								-20.000000	1	1	0	0		1	0	1	1	2.052461	0	0.400000	1.870000	0.398798	0.930000	0.780000	1.000000	1.000000	0.928163	0.930000	1	0.850000	1.000000
SLC25A6	293	broad.mit.edu	37	X	1508186	1508186	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:1508186C>T	ENST00000381401.5	-	2	1260	c.546G>A	c.(544-546)caG>caA	p.Q182Q	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6			11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)		Clodronate(DB00720)	TGATGATGCCCTGCACGGAGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000381401.5	1	1	hg19	CCDS14114.1																																																																																				TCGA-HZ-7919-01A-11D-2154-08	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	1	0	0	143	664	0	95	1	1	232	1049	0	95	2		0	0	0	0	0	2	1	1.000000	143	655	0	93	2								-3.246038	1	1	0	0		1	0	1	1			0.400000	1.870000	0.400000	0.880000	0.750000	1.000000	1.000000	0.886738	0.880000	1	0.810000	0.950000
FLNA	2316	broad.mit.edu	37	X	153583275	153583275	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:153583275T>C	ENST00000369850.3	-	31	5371	c.5135A>G	c.(5134-5136)tAc>tGc	p.Y1712C	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000422373.1_Missense_Mutation_p.Y1704C|FLNA_ENST00000344736.4_Missense_Mutation_p.Y1704C|FLNA_ENST00000360319.4_Missense_Mutation_p.Y1704C	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha			6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				GGGGGCCGTGTAGAAGATGTC	0.617000											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001583	missense			ENST00000369850.3	1	1	hg19	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057671	0.55325	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	5.12	5.12	0.69794	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.98485	0.9495	H	0.96748	3.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99605	1.0979	10	0.87932	D	0	.	14.2282	0.65873	0.0:0.0:0.0:1.0	.	1704;1712	P21333-2;P21333	.;FLNA_HUMAN	C	1704;1685;1704;1712;1704	ENSP00000353467:Y1704C;ENSP00000416926:Y1704C;ENSP00000358866:Y1712C;ENSP00000358863:Y1704C	ENSP00000358863:Y1704C	Y	-	2	0	FLNA	153236469	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	6.061000	0.71148	1.806000	0.52798	0.486000	0.48141	TAC		TCGA-HZ-7919-01A-11D-2154-08	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	1	0	1	109	332	0	65	0	1	0	603	0	65	2		0	0	0	0	0	2	1	1.000000	107	330	0	65	2								-20.000000	1	1	0	0		1	0	1	1			0.400000	1.870000	0.400000	0.990000	0.990000	1.000000	1.000000	0.999759	0.990000	1	0.990000	1.000000
BRWD3	254065	broad.mit.edu	37	X	79985487	79985487	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:79985487G>A	ENST00000373275.4	-	13	1376	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3			87					AATTCTTGCCGTTCCATCTCG	0.299000																								0							SO:0001583	missense			ENST00000373275.4	1	1	hg19	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237206	0.79800	.	.	ENSG00000165288	ENST00000373275	T	0.69561	-0.41	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.85220	0.1026	9	.	.	.	-2.364	16.3826	0.83473	0.0:0.0:1.0:0.0	.	387	Q6RI45	BRWD3_HUMAN	M	387	ENSP00000362372:T387M	.	T	-	2	0	BRWD3	79872143	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.207000	0.77899	2.035000	0.60131	0.513000	0.50165	ACG		TCGA-HZ-7919-01A-11D-2154-08	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	0	0	1	70	306	1	43	0	4.591915e-01	0	8	1	43	2		0	0	0	0	0	2	1	1.000000	69	303	1	43	25								-3.356559	1	1	0	0		1	0	1	1			0.400000	1.870000	0.400000	0.920000	0.740000	1.000000	1.000000	0.919170	0.920000	1	0.830000	1.000000
