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
GANAB	23193	broad.mit.edu	37	11	62398507	62398512	+	In_Frame_Del	DEL	AGACTA	AGACTA	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08			AGACTA	-	AGACTA	AGACTA		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:62398507_62398512delAGACTA	ENST00000356638.3	-	10	1156_1161	c.1140_1145delTAGTCT	c.(1138-1146)gctagtctc>gcc	p.SL381del	GANAB_ENST00000534779.1_In_Frame_Del_p.SL289del|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000346178.4_In_Frame_Del_p.SL403del|GANAB_ENST00000540933.1_In_Frame_Del_p.SL284del	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB			35				Miglitol(DB00491)	TGTACCTGTGAGACTAGCATATTGCC	0.495000													Melanoma(23;1005 1074 15747 18937)											0							SO:0001651	inframe_deletion			ENST00000356638.3	1	1	hg19	CCDS8026.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	1	0	0	74	668	0	174	1	1	5	321	0	174	2			0	0	0	0		1	1.000000	93	679	0	170	2								-19.981250	1	1	0	0		1	1	2	3	2.015408	0	0.300000	1.950000	0.301048	0.660000	5.200000e-01	0.820000	0.660000	0.670947	0.660000	0	5.900000e-01	7.400000e-01
SMAD4	4089	broad.mit.edu	37	18	48584504	48584504	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:48584504delC	ENST00000342988.3	+	6	1215	c.677delC	c.(676-678)gccfs	p.A226fs	SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Intron|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.A226fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			GGTCAGCCTGCCAGTATACTG	0.438000																								38	Whole gene deletion(36)|Unknown(2)						SO:0001589	frameshift_variant			ENST00000342988.3	1	1	hg19	CCDS11950.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	30	198	0	52	0	9.583934e-01	0	37	0	52	2	1	1	37	232	0	358	2	1	1.000000	32	189	0	51	2								-14.496740	1	1	0	0		1	0	1	1	1.716786	1	0.300000	1.950000	0.176471	0.730000	5.100000e-01	0.950000	0.730000	0.739496	0.730000	0	6.100000e-01	8.600000e-01
TMF1	7110	broad.mit.edu	37	3	69082709	69082710	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:69082709_69082710delAG	ENST00000398559.2	-	10	2606_2607	c.2390_2391delCT	c.(2389-2391)tctfs	p.S797fs	TMF1_ENST00000543976.1_Frame_Shift_Del_p.S800fs|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1			22		Lung NSC(201;0.0193)|Prostate(884;0.174)			CAAGCCTATCAGAAAGATTCTT	0.366000																								0							SO:0001589	frameshift_variant			ENST00000398559.2	1	1	hg19	CCDS43105.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	1	0	0	34	365	0	111	0	9.524761e-01	0	56	0	111	2			0	0	0	0		1	1.000000	38	365	0	110	2								-2.716734	1	1	0	0		1	0	1	1	2.008791	0	0.300000	1.950000	0.297894	0.560000	4.000000e-01	0.760000	0.570000	0.576713	0.560000	0	4.700000e-01	6.700000e-01
SEC61B	10952	broad.mit.edu	37	9	101992661	101992668	+	Frame_Shift_Del	DEL	TTCTGTAT	TTCTGTAT	-	rs1804433		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08			TTCTGTAT	-	TTCTGTAT	TTCTGTAT		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:101992661_101992668delTTCTGTAT	ENST00000223641.4	+	4	309_316	c.246_253delTTCTGTAT	c.(244-255)gcttctgtatttfs	p.SVF83fs	SEC61B_ENST00000498603.1_Frame_Shift_Del_p.SVF29fs	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit			2		Acute lymphoblastic leukemia(62;0.0559)			TGTTCATCGCTTCTGTATTTATGTTGCA	0.380000																								0							SO:0001589	frameshift_variant			ENST00000223641.4	1	1	hg19	CCDS6741.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	1	0	0	42	786	0	186	1	1	7	699	0	186	2			0	0	0	0		1	0.918239	81	813	4	190	34								-6.000279	1	1	0	0		1	0	0	0	2.001353	0	0.300000	1.950000	0.295775	0.330000	2.400000e-01	0.440000	0.330000	0.342323	0.330000	0	2.800000e-01	3.900000e-01
RASGEF1A	221002	broad.mit.edu	37	10	43697262	43697262	+	Silent	SNP	A	A	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:43697262A>G	ENST00000395809.1	-	4	2959	c.453T>C	c.(451-453)tgT>tgC	p.C151C	RASGEF1A_ENST00000374459.1_Silent_p.C159C|RASGEF1A_ENST00000395810.1_Silent_p.C151C|RASGEF1A_ENST00000472864.1_5'UTR			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A			11					TCACCTCATCACACTGGGTGA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000395809.1	0	1	hg19	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	A	2.707	-0.269595	0.05716	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.5	-2.64	0.06114	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2198	0.59881	0.6996:0.0:0.3004:0.0	.	.	.	.	R	53	.	.	X	-	1	0	RASGEF1A	43017268	0.139000	0.22563	0.434000	0.26772	0.171000	0.22731	-0.404000	0.07205	-0.801000	0.04427	-1.215000	0.01618	TGA		TCGA-2J-AAB4-01A-12D-A40W-08	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	1	0	1	12	89	0	21	1	5.296683e-01	3	11	0	21	2		0	0	0	0	0	2	1	0.999223	11	88	0	21	2								-19.471930	1	1	0	0		1	0	1	1	2.007126	0	0.300000	1.950000	0.297894	0.790000	4.400000e-01	1.000000	1.000000	0.793284	0.790000	0	6.000000e-01	1
CXCL12	6387	broad.mit.edu	37	10	44876321	44876321	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:44876321G>A	ENST00000374429.2	-	2	155	c.69C>T	c.(67-69)ccC>ccT	p.P23P	CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395795.4_Silent_p.P23P|CXCL12_ENST00000343575.6_Silent_p.P23P|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000374426.2_Silent_p.P23P|CXCL12_ENST00000395794.2_Silent_p.P23P|CXCL12_ENST00000395793.3_Silent_p.P23P	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	p.P23P(3)		6				Tinzaparin(DB06822)	TCAGGCTGACGGGCTTCCCTA	0.507000																								3	Substitution - coding silent(3)						SO:0001819	synonymous_variant			ENST00000374429.2	1	1	hg19	CCDS44373.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	1	0	1	92	568	0	163	0	7.376464e-01	0	18	0	163	2		0	0	0	0	0	2	1	1.000000	91	558	0	160	2								-2.744775	1	1	121412	7	42	1	0	1	1	2.007126	0	0.300000	1.950000	0.297894	0.920000	7.500000e-01	1.000000	1.000000	0.918657	0.920000	1	8.300000e-01	1
MARCH5	54708	broad.mit.edu	37	10	94109589	94109589	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:94109589A>G	ENST00000358935.2	+	5	1047	c.715A>G	c.(715-717)Atc>Gtc	p.I239V		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5			9					ACAAAGGACAATCTTGGTAAG	0.348000																								0							SO:0001583	missense			ENST00000358935.2	1	1	hg19	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.139263	0.56936	.	.	ENSG00000198060	ENST00000358935	T	0.46819	0.86	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	N	0.25380	0.74	0.80722	D	1	B	0.21606	0.058	B	0.15484	0.013	T	0.10917	-1.0609	10	0.27785	T	0.31	-6.4219	16.3512	0.83208	1.0:0.0:0.0:0.0	.	239	Q9NX47	MARH5_HUMAN	V	239	ENSP00000351813:I239V	ENSP00000351813:I239V	I	+	1	0	MARCH5	94099569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.102000	0.94226	2.266000	0.75297	0.533000	0.62120	ATC		TCGA-2J-AAB4-01A-12D-A40W-08	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	0	0	1	48	322	0	136	1	9.999970e-01	35	93	0	136	2		0	0	0	0	0	2	1	1.000000	48	319	0	136	2								-20.000000	1	1	121412	2	35	1	1	2	3	2.031374	0	0.300000	1.950000	0.304175	0.870000	6.500000e-01	1.000000	1.000000	0.871807	0.870000	1	7.500000e-01	1
ADAMTS15	170689	broad.mit.edu	37	11	130343247	130343247	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:130343247G>A	ENST00000299164.2	+	8	2384	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15			36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			CCCCGGGTCCGCTACTCCTTC	0.657000																								0							SO:0001583	missense			ENST00000299164.2	1	1	hg19	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964311	0.92791	.	.	ENSG00000166106	ENST00000299164	T	0.52526	0.66	5.91	4.99	0.66335	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.58177	0.2104	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.55366	-0.8152	9	0.30854	T	0.27	.	16.5512	0.84473	0.0:0.0:0.8684:0.1316	.	795	Q8TE58	ATS15_HUMAN	H	795	ENSP00000299164:R795H	ENSP00000299164:R795H	R	+	2	0	ADAMTS15	129848457	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.428000	0.73383	1.498000	0.48600	0.655000	0.94253	CGC		TCGA-2J-AAB4-01A-12D-A40W-08	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	0	0	1	218	693	1	146	1	5.773642e-02	2	0	1	146	2		0	0	0	0	0	2	1	1.000000	215	673	1	144	21								-20.000000	1	1	121380	2	36	1	1	2	3	2.315870	1	0.300000	1.950000	0.384886	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-2J-AAB4-01A-12D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	18	165	0	67	1	5.240795e-01	9	8	0	67	2	1	9.999992e-01	28	215	0	343	2	1	0.999986	18	164	0	67	2								-8.782162	1	1	0	0		1	0	2	2	1.894994	1	0.300000	1.950000	0.300000	0.720000	4.200000e-01	1.000000	0.650000	0.752612	0.720000	0	5.500000e-01	1
LMBR1L	55716	broad.mit.edu	37	12	49491751	49491751	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:49491751G>A	ENST00000267102.8	-	16	1720	c.1378C>T	c.(1378-1380)Cgg>Tgg	p.R460W	LMBR1L_ENST00000395141.4_Missense_Mutation_p.R455W|LMBR1L_ENST00000547382.1_Missense_Mutation_p.R440W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like			15					AGCTCTGCCCGCACAGCTGCA	0.562000											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000267102.8	0	1	hg19	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231485	0.79688	2.27E-4	0.0	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141	T;T;T	0.58506	0.41;0.33;0.37	5.84	2.54	0.30619	.	0.054147	0.64402	D	0.000001	T	0.66287	0.2774	L	0.43923	1.385	0.41689	D	0.989332	D;D;D	0.89917	0.996;0.993;1.0	P;P;D	0.67231	0.649;0.548;0.95	T	0.69439	-0.5145	10	0.87932	D	0	.	13.789	0.63128	0.0:0.0:0.5232:0.4768	.	440;460;455	Q6UX01-3;Q6UX01;Q6UX01-4	.;LMBRL_HUMAN;.	W	460;440;455	ENSP00000267102:R460W;ENSP00000447329:R440W;ENSP00000378573:R455W	ENSP00000267102:R460W	R	-	1	2	LMBR1L	47778018	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.523000	0.73787	0.620000	0.30215	0.563000	0.77884	CGG		TCGA-2J-AAB4-01A-12D-A40W-08	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	0	0	0	6	521	1	93	0	3.575592e-03	0	90	1	93	6		0	0	0	0	0	2	0	0.005661	6	509	1	92	19								-1.997445	0	1	121412	3	40	1						0.300000	1.950000									0	0
FBXO34	55030	broad.mit.edu	37	14	55818287	55818287	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:55818287G>A	ENST00000313833.4	+	2	1424	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	FBXO34_ENST00000440021.1_Silent_p.S393S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34			22					AGCCGGGTTCGCAAACTGCCG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000313833.4	0	1	hg19	CCDS32086.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1	0	0	0	7	515	0	129	0	2.978547e-01	0	71	0	129	2		0	0	0	0	0	2	1	0.979640	6	509	0	125	2								-2.032865	0	1	121412	1	33	1	1	2	3	2.023443	0	0.300000	1.950000	0.302094	0.090000	3.000000e-02	0.190000	0.090000	0.110434	0.090000	0	6.000000e-02	1.400000e-01
VPS13C	54832	broad.mit.edu	37	15	62255003	62255003	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr15:62255003G>A	ENST00000261517.5	-	33	3453	c.3380C>T	c.(3379-3381)gCc>gTc	p.A1127V	VPS13C_ENST00000395896.4_Missense_Mutation_p.A1127V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1084V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1084V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)			117					TTCTAGTCGGGCAAAAAGTGA	0.328000																								0							SO:0001583	missense			ENST00000261517.5	0	1	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012850	0.35511	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.45276	0.9;0.9;0.9	5.93	5.01	0.66863	.	0.386164	0.25909	N	0.027516	T	0.38214	0.1032	M	0.62266	1.93	0.53005	D	0.999967	B;B;B;B	0.29232	0.238;0.238;0.238;0.153	B;B;B;B	0.30855	0.121;0.121;0.121;0.076	T	0.12293	-1.0553	10	0.23891	T	0.37	.	9.4557	0.38753	0.0712:0.0:0.7853:0.1436	.	1084;1127;1084;1127	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	1084;1127;1127;1127	ENSP00000249837:A1084V;ENSP00000261517:A1127V;ENSP00000379233:A1127V	ENSP00000249837:A1084V	A	-	2	0	VPS13C	60042295	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	6.845000	0.75394	2.805000	0.96524	0.655000	0.94253	GCC		TCGA-2J-AAB4-01A-12D-A40W-08	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	0	0	0	5	249	0	65	0	1.990316e-02	0	9	0	65	2		0	0	0	0	0	2	1	0.935521	6	244	0	65	2								-2.522317	1	1	0	0		1	0	1	1	2.013936	0	0.300000	1.950000	0.298948	0.140000	5.000000e-02	0.290000	0.130000	0.154581	0.140000	0	8.000000e-02	2.100000e-01
DNAH3	55567	broad.mit.edu	37	16	21080894	21080894	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:21080894G>A	ENST00000261383.3	-	23	3222	c.3223C>T	c.(3223-3225)Cgc>Tgc	p.R1075C	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1075C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	p.R1075C(2)		202					TCTTGTATGCGAATTAGCTTT	0.458000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000261383.3	1	1	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521152	0.27211	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.62232	0.04;0.04	5.4	4.38	0.52667	Dynein heavy chain, domain-2 (1);	0.726956	0.12981	N	0.423277	T	0.67571	0.2907	M	0.61703	1.905	0.09310	N	0.999999	D	0.71674	0.998	P	0.56916	0.809	T	0.59920	-0.7363	10	0.49607	T	0.09	.	5.2981	0.15764	0.0831:0.1449:0.6224:0.1496	.	1075	Q8TD57	DYH3_HUMAN	C	1075	ENSP00000261383:R1075C;ENSP00000394245:R1075C	ENSP00000261383:R1075C	R	-	1	0	DNAH3	20988395	0.019000	0.18553	0.931000	0.37212	0.665000	0.39181	1.662000	0.37418	2.696000	0.92011	0.655000	0.94253	CGC		TCGA-2J-AAB4-01A-12D-A40W-08	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	1	0	1	46	313	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	1.000000	46	311	0	114	2								-19.241680	1	1	121410	3	35	1	1	2	3	2.023048	0	0.300000	1.950000	0.302094	0.850000	6.400000e-01	1.000000	1.000000	0.858019	0.850000	1	7.400000e-01	9.900000e-01
CASKIN1	57524	broad.mit.edu	37	16	2228635	2228635	+	Silent	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:2228635C>T	ENST00000343516.6	-	20	4304	c.4212G>A	c.(4210-4212)gcG>gcA	p.A1404A		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1			28					TGCTCTTTTCCGCCGCCGAGT	0.716000																								0							SO:0001819	synonymous_variant			ENST00000343516.6	1	1	hg19	CCDS42103.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	1	0	0	14	106	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	0.999792	14	104	0	38	2								-3.323279	1	1	119936	9	37	1	1	2	3	2.023048	0	0.300000	1.950000	0.302094	0.790000	4.600000e-01	1.000000	1.000000	0.789378	0.790000	0	6.100000e-01	1
MEFV	4210	broad.mit.edu	37	16	3293521	3293521	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:3293521C>T	ENST00000219596.1	-	10	2005	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	MEFV_ENST00000339854.4_Missense_Mutation_p.E476K|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.E445K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever			50					ACCTCCACCTCCCAGTAACGG	0.542000																								0							SO:0001583	missense			ENST00000219596.1	1	1	hg19	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791684	0.70452	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.77620	-1.11;-1.11;-1.11	5.03	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.139173	0.33110	N	0.005270	D	0.92750	0.7695	H	0.99312	4.51	0.37407	D	0.913101	D	0.89917	1.0	D	0.85130	0.997	D	0.96110	0.9076	10	0.87932	D	0	.	13.8796	0.63674	0.0:0.846:0.154:0.0	.	656	O15553	MEFV_HUMAN	K	656;656;476;445	ENSP00000219596:E656K;ENSP00000339639:E476K;ENSP00000445079:E445K	ENSP00000219596:E656K	E	-	1	0	MEFV	3233522	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.985000	0.56930	2.496000	0.84212	0.650000	0.86243	GAG		TCGA-2J-AAB4-01A-12D-A40W-08	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	1	0	1	95	471	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	1.000000	94	452	0	132	2								-3.331202	1	1	0	0		1	1	2	3	2.023048	0	0.300000	1.950000	0.302094	0.990000	9.200000e-01	1.000000	1.000000	0.994754	0.990000	1	9.900000e-01	1
DLG4	1742	broad.mit.edu	37	17	7100076	7100076	+	Splice_Site	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:7100076C>T	ENST00000399506.2	-	9	1274	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S	DLG4_ENST00000399510.2_Splice_Site_p.S404S|DLG4_ENST00000302955.6_Splice_Site_p.S358S			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)			18				Guanidine(DB00536)	CTTCCCTCACCGACAGGATCT	0.667000																								0							SO:0001630	splice_region_variant			ENST00000399506.2	0	1	hg19																																																																																					TCGA-2J-AAB4-01A-12D-A40W-08	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	0	0	0	6	37	0	13	0	9.190821e-01	0	31	0	13	2		0	0	0	0	0	2	1	0.963670	5	36	0	13	2								-12.956960	1	1	0	0		1	0	1	1	1.759855	1	0.300000	1.950000	0.185099	0.720000	3.300000e-01	1.000000	1.000000	0.716573	0.720000	0	5.000000e-01	9.300000e-01
TP53	7157	broad.mit.edu	37	17	7578554	7578554	+	Splice_Site	SNP	A	A	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:7578554A>T	ENST00000269305.4	-	5	565	c.376T>A	c.(376-378)Tac>Aac	p.Y126N	TP53_ENST00000445888.2_Splice_Site_p.Y126N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.Y126N|TP53_ENST00000420246.2_Splice_Site_p.Y126N|TP53_ENST00000359597.4_Splice_Site_p.Y126N|TP53_ENST00000413465.2_Splice_Site_p.Y126N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GCAGGGGAGTACTGTAGGAAG	0.557000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	40	Substitution - Missense(17)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(4)|Insertion - In frame(1)|Unknown(1)	GRCh37	CI004819	TP53	I		SO:0001630	splice_region_variant	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	0	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.639687	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.961;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	1.0:0.0:0.0:0.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126N;ENSP00000352610:Y126N;ENSP00000269305:Y126N;ENSP00000398846:Y126N;ENSP00000391127:Y126N;ENSP00000391478:Y126N;ENSP00000423862:Y33N;ENSP00000424104:Y126N;ENSP00000426252:Y126N	ENSP00000269305:Y126N	Y	-	1	0	TP53	7519279	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.240000	0.95396	2.206000	0.71126	0.533000	0.62120	TAC		TCGA-2J-AAB4-01A-12D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	20	81	0	31	1	9.977699e-01	9	35	0	31	2	1	1	215	1138	0	1826	2	1	0.999998	20	80	0	31	2								-20.000000	1	1	0	0		1	0	1	1	1.759855	1	0.300000	1.950000	0.185099	0.930000	6.600000e-01	1.000000	1.000000	0.911469	0.930000	1	8.000000e-01	1
RBBP8	5932	broad.mit.edu	37	18	20602110	20602110	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:20602110G>A	ENST00000399722.2	+	18	2824	c.2473G>A	c.(2473-2475)Gca>Aca	p.A825T	RBBP8_ENST00000360790.5_Missense_Mutation_p.A830T|RBBP8_ENST00000581687.1_Missense_Mutation_p.A3T|RBBP8_ENST00000399725.2_Silent_p.Q792Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.A825T|Y_RNA_ENST00000411091.1_RNA	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)		AGATATGCCAGCAGAAGAAAG	0.353000								Homologous recombination																0							SO:0001583	missense			ENST00000399722.2	0	1	hg19	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495044	0.44352	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.32272	1.47;1.47;1.46	5.93	3.14	0.36123	.	0.054739	0.64402	D	0.000001	T	0.25606	0.0623	L	0.29908	0.895	0.32479	N	0.541741	P;P	0.47191	0.891;0.656	P;B	0.46419	0.516;0.297	T	0.22695	-1.0209	10	0.25751	T	0.34	-9.1687	10.6324	0.45545	0.0674:0.2497:0.6829:0.0	.	830;825	E7ETY1;Q99708	.;COM1_HUMAN	T	825;825;830	ENSP00000323050:A825T;ENSP00000382628:A825T;ENSP00000354024:A830T	ENSP00000323050:A825T	A	+	1	0	RBBP8	18856108	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.513000	0.81739	0.384000	0.24942	0.585000	0.79938	GCA		TCGA-2J-AAB4-01A-12D-A40W-08	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	0	0	0	6	773	0	181	0	1.998452e-01	0	91	0	181	2		0	0	0	0	0	2	1	0.963331	6	761	0	181	2								-2.510822	1	1	0	0		1	2	2	4	2.345917	1	0.300000	1.950000	0.400685	0.070000	1.000000e-02	1.000000	0.060000	0.291718	0.070000	0	4.000000e-02	1
SYT4	6860	broad.mit.edu	37	18	40853958	40853958	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:40853958T>A	ENST00000255224.3	-	2	804	c.436A>T	c.(436-438)Act>Tct	p.T146S	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.T128S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV			44					TCTTCTGAAGTAAGGGAAGTG	0.448000													NSCLC(85;81 1419 2855 22820 35912)											0							SO:0001583	missense			ENST00000255224.3	1	1	hg19	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.718377	0.00093	.	.	ENSG00000132872	ENST00000255224	T	0.07800	3.16	5.87	0.661	0.17874	.	0.510618	0.23724	N	0.045196	T	0.02230	0.0069	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45977	-0.9224	10	0.02654	T	1	.	6.2987	0.21101	0.5002:0.1473:0.0:0.3526	.	128;146	B4DEU3;Q9H2B2	.;SYT4_HUMAN	S	146	ENSP00000255224:T146S	ENSP00000255224:T146S	T	-	1	0	SYT4	39107956	0.020000	0.18652	0.091000	0.20842	0.126000	0.20510	0.155000	0.16362	-0.290000	0.09025	-1.427000	0.01099	ACT		TCGA-2J-AAB4-01A-12D-A40W-08	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	1	0	1	36	163	0	60	0	7.797522e-01	0	15	0	60	2		0	0	0	0	0	2	1	1.000000	36	162	0	60	2								-20.000000	1	1	0	0		1	0	1	1	1.716786	1	0.300000	1.950000	0.176471	0.900000	6.900000e-01	1.000000	0.990000	0.893530	0.900000	1	8.000000e-01	9.700000e-01
ZNF506	440515	broad.mit.edu	37	19	19905821	19905821	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:19905821T>C	ENST00000540806.2	-	4	963	c.875A>G	c.(874-876)aAa>aGa	p.K292R	CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.K260R|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000443905.2_Missense_Mutation_p.K292R			Q5JVG8	ZN506_HUMAN	zinc finger protein 506			14					AATAAAGGCTTTGCCACATTT	0.383000																								0							SO:0001583	missense			ENST00000540806.2	1	1	hg19	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	-	12.46	1.944705	0.34283	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.35789	1.75;1.75;1.29	0.974	0.974	0.19715	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28366	0.0701	L	0.33339	1.005	0.30874	N	0.732139	B;B	0.20368	0.044;0.005	B;B	0.32465	0.146;0.009	T	0.37174	-0.9717	9	0.62326	D	0.03	.	5.7771	0.18285	0.0:0.0:0.0:1.0	.	292;260	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	R	292;292;260	ENSP00000393835:K292R;ENSP00000440625:K292R;ENSP00000408892:K260R	ENSP00000393835:K292R	K	-	2	0	ZNF506	19766821	0.999000	0.42202	0.339000	0.25562	0.301000	0.27625	5.174000	0.65015	0.358000	0.24211	0.347000	0.21830	AAA		TCGA-2J-AAB4-01A-12D-A40W-08	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	1	0	1	44	281	0	98	1	7.496107e-01	3	16	0	98	2		0	0	0	0	0	2	1	0.999996	44	275	1	98	13								-20.000000	1	1	0	0		1	1	2	3	2.064520	0	0.300000	1.950000	0.310345	0.920000	6.800000e-01	1.000000	1.000000	0.909832	0.920000	1	7.900000e-01	1
ZNF345	25850	broad.mit.edu	37	19	37368703	37368703	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:37368703G>A	ENST00000529555.1	+	2	1759	c.971G>A	c.(970-972)aGa>aAa	p.R324K	ZNF345_ENST00000589046.1_Missense_Mutation_p.R324K|ZNF345_ENST00000420450.1_Missense_Mutation_p.R324K|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345			24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		AAAGCCTTTAGAAGTGGTTCA	0.413000																								0							SO:0001583	missense			ENST00000529555.1	1	1	hg19	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543390	0.27563	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.07327	3.2;3.2	3.8	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.03304	-0.355	0.09310	N	0.999994	B	0.13594	0.008	B	0.18561	0.022	T	0.39482	-0.9612	9	0.45353	T	0.12	.	5.1601	0.15056	0.117:0.2162:0.6668:0.0	.	324	Q14585	ZN345_HUMAN	K	324;324;88	ENSP00000431216:R324K;ENSP00000431202:R324K	ENSP00000442320:R88K	R	+	2	0	ZNF345	42060543	0.000000	0.05858	0.999000	0.59377	0.978000	0.69477	-1.214000	0.02988	0.857000	0.35407	0.462000	0.41574	AGA		TCGA-2J-AAB4-01A-12D-A40W-08	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1	1	0	1	60	342	0	86	0	1.116853e-01	0	4	0	86	2		0	0	0	0	0	2	1	1.000000	60	339	0	86	2								-20.000000	1	1	0	0		1	1	2	3	2.258037	1	0.300000	1.950000	0.386503	0.990000	8.800000e-01	1.000000	1.000000	0.991548	0.990000	1	9.900000e-01	1
PSG1	5669	broad.mit.edu	37	19	43383710	43383710	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:43383710G>A	ENST00000436291.2	-	1	140	c.24C>T	c.(22-24)ccC>ccT	p.P8P	PSG1_ENST00000403380.3_Silent_p.P8P|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Silent_p.P8P|PSG1_ENST00000244296.2_Silent_p.P8P|PSG1_ENST00000312439.6_Silent_p.P8P|PSG1_ENST00000595124.1_Silent_p.P8P	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1			30		Prostate(69;0.00682)			GCTGTGTGCAGGGAGGGGCTG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000436291.2	1	1	hg19	CCDS54275.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1	1	0	1	89	417	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1.000000	87	404	0	108	2								-2.921238	1	1	121344	3	37	1	0	2	2	1.866741	1	0.300000	1.950000	0.300000	0.990000	9.500000e-01	1.000000	1.000000	0.997662	0.990000	1	9.900000e-01	1
NTNG1	22854	broad.mit.edu	37	1	107867468	107867468	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:107867468G>A	ENST00000370068.1	+	3	1657	c.811G>A	c.(811-813)Gtt>Att	p.V271I	NTNG1_ENST00000370070.2_Missense_Mutation_p.V271I|NTNG1_ENST00000542803.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370073.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370066.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370074.4_Missense_Mutation_p.V271I|NTNG1_ENST00000370065.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370072.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370067.1_Missense_Mutation_p.V271I|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370061.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370071.2_Missense_Mutation_p.V271I			Q9Y2I2	NTNG1_HUMAN	netrin G1	p.V271I(2)		37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)			AAGACCAGCCGTTGGGGAAAT	0.458000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000370068.1	1	1	hg19	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630818	0.28978	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.94	3.92	0.45320	Laminin, N-terminal (3);	0.336633	0.24492	N	0.038046	T	0.29850	0.0746	N	0.04508	-0.205	0.33178	D	0.549223	B;B;B;B;B	0.25772	0.001;0.134;0.007;0.021;0.076	B;B;B;B;B	0.28709	0.007;0.093;0.019;0.024;0.046	T	0.05435	-1.0885	10	0.40728	T	0.16	.	4.7071	0.12855	0.6449:0.0:0.3551:0.0	.	271;271;271;271;271	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	I	271;271;271;271;271;271;271;271;32;32;271;271;271;271;271;271	ENSP00000359090:V271I;ENSP00000359088:V271I;ENSP00000440561:V271I;ENSP00000359078:V271I;ENSP00000359089:V271I;ENSP00000359087:V271I;ENSP00000359091:V271I;ENSP00000359085:V271I;ENSP00000359084:V271I;ENSP00000359083:V271I;ENSP00000359082:V271I	ENSP00000294649:V271I	V	+	1	0	NTNG1	107668991	1.000000	0.71417	0.787000	0.31911	0.994000	0.84299	7.637000	0.83313	0.752000	0.32923	0.655000	0.94253	GTT		TCGA-2J-AAB4-01A-12D-A40W-08	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	1	0	1	42	340	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	1.000000	41	336	0	56	2								-3.221884	1	1	0	0		1	1	2	3	2.043436	0	0.300000	1.950000	0.306244	0.740000	5.400000e-01	1.000000	0.730000	0.759956	0.740000	0	6.300000e-01	8.800000e-01
CD1B	910	broad.mit.edu	37	1	158300606	158300606	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:158300606G>A	ENST00000368168.3	-	2	415	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule			30	all_hematologic(112;0.0378)				GAAATCACCGGCAAAGTCTTG	0.433000																								0							SO:0001583	missense			ENST00000368168.3	0	1	hg19	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	7.665	0.685781	0.14973	.	.	ENSG00000158485	ENST00000368168	T	0.06371	3.31	4.28	-3.93	0.04143	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.257440	0.05775	N	0.607617	T	0.00845	0.0028	N	0.11023	0.085	0.09310	N	1	B;B	0.32396	0.369;0.008	B;B	0.24541	0.054;0.012	T	0.44907	-0.9297	10	0.13108	T	0.6	-2.4627	10.7361	0.46126	0.7119:0.0:0.2881:0.0	.	103;103	B4E0D2;P29016	.;CD1B_HUMAN	V	103	ENSP00000357150:A103V	ENSP00000357150:A103V	A	-	2	0	CD1B	156567230	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.975000	0.03790	-0.705000	0.05035	0.655000	0.94253	GCC		TCGA-2J-AAB4-01A-12D-A40W-08	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	0	0	0	7	1201	1	303	0	4.913636e-05	0	2	1	303	2		0	0	0	0	0	2	0	0.061823	7	1185	1	302	15								-2.219813	0	1	0	0		1	1	2	3	2.016659	0	0.300000	1.950000	0.301048	0.030000	0	0.080000	0.040000	0.044061	0.030000	0	2.000000e-02	6.000000e-02
ITLN1	55600	broad.mit.edu	37	1	160850421	160850421	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:160850421G>A	ENST00000326245.3	-	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)			21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)		TCTGGGCGTCGCCAAAATCAT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000326245.3	0	1	hg19	CCDS1211.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	0	0	0	7	793	0	201	0	6.581063e-04	0	4	0	201	2		0	0	0	0	0	2	0	0.060036	7	780	1	201	15								-1.626615	0	1	121412	3	42	1	1	2	3	2.016659	0	0.300000	1.950000	0.301048	0.050000	2.000000e-02	0.120000	0.060000	0.066443	0.050000	0	3.000000e-02	9.000000e-02
DNAJC6	9829	broad.mit.edu	37	1	65845149	65845149	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:65845149G>A	ENST00000395325.3	+	5	594	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	DNAJC6_ENST00000371069.4_Missense_Mutation_p.R203Q|DNAJC6_ENST00000263441.7_Missense_Mutation_p.R133Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6			39					GCTGTGTGTCGGAATATGTAT	0.458000																								0							SO:0001583	missense			ENST00000395325.3	1	1	hg19	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005156	0.74932	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98649	-5.05;-5.05;-5.05	5.41	3.42	0.39159	Phosphatase tensin type (1);	0.055637	0.64402	D	0.000001	D	0.90937	0.7151	N	0.17474	0.49	0.31432	N	0.672981	P;P;D	0.54397	0.932;0.811;0.966	B;B;B	0.40444	0.124;0.058;0.329	D	0.89605	0.3837	10	0.44086	T	0.13	.	4.517	0.11939	0.3974:0.0:0.6026:0.0	.	203;146;133	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	Q	133;146;203	ENSP00000263441:R133Q;ENSP00000378735:R146Q;ENSP00000360108:R203Q	ENSP00000263441:R133Q	R	+	2	0	DNAJC6	65617737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.122000	0.77169	1.520000	0.48965	0.561000	0.74099	CGG		TCGA-2J-AAB4-01A-12D-A40W-08	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1	1	0	1	87	490	0	124	0	2.286730e-01	0	6	0	124	2		0	0	0	0	0	2	1	1.000000	87	480	0	123	2								-2.416268	0	1	121412	4	39	1	1	2	3	2.043436	0	0.300000	1.950000	0.306244	0.990000	8.200000e-01	1.000000	1.000000	0.970232	0.990000	1	9.100000e-01	1
TGM3	7053	broad.mit.edu	37	20	2290352	2290352	+	Silent	SNP	G	G	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:2290352G>T	ENST00000381458.5	+	2	120	c.57G>T	c.(55-57)gcG>gcT	p.A19A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3			39				L-Glutamine(DB00130)	ACCGACAAGCGCATCACACAG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000381458.5	1	1	hg19	CCDS33435.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	1	0	1	74	477	0	123		0	0	0	0	123	2		0	0	0	0	0	2	1	1.000000	72	472	0	123	2								-3.221898	1	1	0	0		1	0	1	1	2.008187	0	0.300000	1.950000	0.297894	0.880000	7.100000e-01	1.000000	1.000000	0.889781	0.880000	1	7.900000e-01	9.900000e-01
RPRD1B	58490	broad.mit.edu	37	20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B			12					CTGGAAAATGCCGCATCAGGG	0.413000																								0							SO:0001583	missense			ENST00000373433.4	0	1	hg19	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667224	0.96745	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.4	5.4	0.78164	.	0.046127	0.85682	D	0.000000	T	0.71005	0.3289	M	0.68593	2.085	0.80722	D	1	P	0.51653	0.947	P	0.50537	0.643	T	0.74438	-0.3665	9	0.72032	D	0.01	-10.9352	18.3479	0.90328	0.0:1.0:0.0:0.0	.	190	Q9NQG5	RPR1B_HUMAN	V	190;72	.	ENSP00000362532:A190V	A	+	2	0	RPRD1B	36121250	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.651000	0.83577	2.814000	0.96858	0.563000	0.77884	GCC		TCGA-2J-AAB4-01A-12D-A40W-08	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	0	0	0	5	336	0	69	0	1.192916e-01	0	33	0	69	2		0	0	0	0	0	2	1	0.935032	5	330	0	69	2								-2.228903	0	1	0	0		1	0	1	1	2.008187	0	0.300000	1.950000	0.297894	0.100000	3.000000e-02	0.210000	0.100000	0.115468	0.100000	0	6.000000e-02	1.600000e-01
ABCG1	9619	broad.mit.edu	37	21	43706012	43706012	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr21:43706012A>G	ENST00000361802.2	+	8	1026	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	ABCG1_ENST00000398449.3_Missense_Mutation_p.Q294R|ABCG1_ENST00000398457.2_Missense_Mutation_p.Q296R|ABCG1_ENST00000340588.4_Missense_Mutation_p.Q402R|ABCG1_ENST00000343687.3_Missense_Mutation_p.Q305R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.Q291R|ABCG1_ENST00000398437.1_Missense_Mutation_p.Q440R	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1			29				Adenosine triphosphate(DB00171)	AGTCAAGGACAATGTGTGTAC	0.493000																								0							SO:0001583	missense			ENST00000361802.2	1	1	hg19	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.296969	0.60086	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.04	4.04	0.47022	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	N	0.00841	-1.15	0.80722	D	1	B;B;D;B;B;D	0.67145	0.11;0.02;0.996;0.057;0.049;0.981	B;B;P;B;B;D	0.67900	0.074;0.032;0.889;0.032;0.061;0.954	T	0.44787	-0.9305	9	.	.	.	-14.5189	13.2943	0.60288	1.0:0.0:0.0:0.0	.	305;305;294;294;291;296	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	R	296;291;294;294;305;440;402	ENSP00000381475:Q296R;ENSP00000291524:Q291R;ENSP00000381467:Q294R;ENSP00000354995:Q294R;ENSP00000339744:Q305R;ENSP00000381464:Q440R;ENSP00000343820:Q402R	.	Q	+	2	0	ABCG1	42579081	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	8.449000	0.90337	1.581000	0.49865	0.482000	0.46254	CAA		TCGA-2J-AAB4-01A-12D-A40W-08	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	1	0	1	115	796	0	256	1	9.999769e-01	38	66	0	256	2		0	0	0	0	0	2	1	1.000000	112	786	0	253	2								-20.000000	1	1	0	0		1	0	1	1	2.008717	0	0.300000	1.950000	0.297894	0.830000	6.900000e-01	0.980000	0.830000	0.841728	0.830000	0	7.600000e-01	9.100000e-01
DNER	92737	broad.mit.edu	37	2	230312173	230312173	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:230312173C>T	ENST00000341772.4	-	8	1479	c.1345G>A	c.(1345-1347)Ggg>Agg	p.G449R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing			63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)			AAGTGTACCCCGTCCACATAG	0.572000																								0							SO:0001583	missense			ENST00000341772.4	1	1	hg19	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	5.804	0.332713	0.11013	.	.	ENSG00000187957	ENST00000341772	D	0.87412	-2.25	4.94	4.01	0.46588	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.209202	0.49916	D	0.000132	T	0.78660	0.4318	L	0.42529	1.33	0.46499	D	0.999072	B	0.25719	0.132	B	0.18871	0.023	T	0.70952	-0.4732	10	0.15066	T	0.55	.	9.0768	0.36527	0.0:0.6526:0.2599:0.0876	.	449	Q8NFT8	DNER_HUMAN	R	449	ENSP00000345229:G449R	ENSP00000345229:G449R	G	-	1	0	DNER	230020417	0.942000	0.31987	0.080000	0.20451	0.198000	0.23893	2.742000	0.47434	2.442000	0.82660	0.655000	0.94253	GGG		TCGA-2J-AAB4-01A-12D-A40W-08	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	1	0	1	19	128	0	25	0	0	0	1	0	25	2		0	0	0	0	0	2	1	0.999990	18	122	0	25	2								-2.723487	1	1	121412	2	38	1	0	0	0	2.001658	0	0.300000	1.950000	0.295775	0.850000	5.400000e-01	1.000000	1.000000	0.846710	0.850000	1	6.800000e-01	1
USP34	9736	broad.mit.edu	37	2	61448662	61448662	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:61448662G>A	ENST00000398571.2	-	66	7950	c.7874C>T	c.(7873-7875)tCt>tTt	p.S2625F	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34			138			Epithelial(17;0.229)		CAGAATATAAGATGCAAAGGG	0.383000																								0							SO:0001583	missense			ENST00000398571.2	1	1	hg19	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619780	0.87460	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.36699	1.24	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.36672	1.1	0.80722	D	1	D	0.56968	0.978	P	0.54664	0.758	T	0.04811	-1.0925	10	0.09590	T	0.72	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	2625	Q70CQ2	UBP34_HUMAN	F	2473;2473;2625	ENSP00000381577:S2625F	ENSP00000263989:S2473F	S	-	2	0	USP34	61302166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.701000	0.98710	2.885000	0.99019	0.655000	0.94253	TCT		TCGA-2J-AAB4-01A-12D-A40W-08	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4	1	0	1	25	150	0	42	1	8.705726e-01	5	19	0	42	2		0	0	0	0	0	2	1	1.000000	25	149	0	39	2								-3.332045	1	1	0	0		1	0	0	0	2.001658	0	0.300000	1.950000	0.295775	0.940000	6.400000e-01	1.000000	1.000000	0.908524	0.940000	1	7.800000e-01	1
FBLN2	2199	broad.mit.edu	37	3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:13679189G>A	ENST00000295760.7	+	17	3394	c.3325G>A	c.(3325-3327)Gcg>Acg	p.A1109T	FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000404922.3_Missense_Mutation_p.A1156T|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	p.A1156T(2)|p.A575T(2)		24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		CATTGGCCCCGCGCCAGCCTT	0.622000																								4	Substitution - Missense(4)						SO:0001583	missense			ENST00000295760.7	0	1	hg19	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946543	0.34377	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79554	-1.28;-1.24;-1.19;-1.24	4.6	2.63	0.31362	.	0.194173	0.46442	D	0.000286	T	0.44871	0.1314	N	0.01729	-0.75	0.35567	D	0.805155	B;P;P	0.48998	0.313;0.918;0.72	B;B;B	0.34138	0.058;0.176;0.131	T	0.54221	-0.8326	10	0.14656	T	0.56	.	5.867	0.18781	0.1026:0.0:0.5213:0.376	.	1109;1156;1135	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	T	1135;1156;1109;1156	ENSP00000445705:A1135T;ENSP00000384169:A1156T;ENSP00000295760:A1109T;ENSP00000420042:A1156T	ENSP00000295760:A1109T	A	+	1	0	FBLN2	13654190	0.993000	0.37304	0.747000	0.31113	0.616000	0.37450	3.099000	0.50267	1.157000	0.42530	0.462000	0.41574	GCG		TCGA-2J-AAB4-01A-12D-A40W-08	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	0	0	0	6	145	0	34	0	9.763739e-01	0	169	0	34	2	1	9.998847e-01	8	555	0	651	2	1	0.962180	6	140	0	34	2								-8.786218	1	1	0	0		1	0	1	1	2.008791	0	0.300000	1.950000	0.297894	0.280000	1.100000e-01	0.530000	0.260000	0.299381	0.280000	0	1.800000e-01	4.000000e-01
ACAP2	23527	broad.mit.edu	37	3	195027287	195027287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:195027287G>A	ENST00000326793.6	-	13	1299	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2			27					ATACTGGTCTGAACAGCCTTA	0.383000																								0							SO:0001587	stop_gained			ENST00000326793.6	0	1	hg19	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.017412|6.017412	0.97205|0.97205	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.051792|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74869	.|0.3773	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73167	.|-0.4068	.|3	0.72032|.	D|.	0.01|.	.|.	18.484|18.484	0.90821|0.90821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	357|231	.|.	ENSP00000324287:Q357X|.	Q|S	-|-	1|2	0|0	ACAP2|ACAP2	196508576|196508576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.593000|2.593000	0.87608|0.87608	0.511000|0.511000	0.50034|0.50034	CAG|TCA		TCGA-2J-AAB4-01A-12D-A40W-08	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	1	0	1	95	650	0	196	0	7.679020e-01	0	21	0	196	2		0	0	0	0	0	2	1	1.000000	95	639	0	195	2								-20.000000	1	1	0	0		1	0	1	1	2.008791	0	0.300000	1.950000	0.297894	0.840000	6.900000e-01	1.000000	0.850000	0.850098	0.840000	0	7.600000e-01	9.300000e-01
WDR48	57599	broad.mit.edu	37	3	39136218	39136218	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:39136218G>A	ENST00000302313.5	+	19	2046	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	WDR48_ENST00000418020.1_Missense_Mutation_p.R117H|WDR48_ENST00000396258.3_Missense_Mutation_p.R591H|WDR48_ENST00000544962.1_Missense_Mutation_p.R398H|WDR48_ENST00000466405.1_3'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48			15					CTCCATTACCGTCAGAAGTCC	0.473000																								0							SO:0001583	missense			ENST00000302313.5	1	1	hg19	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507838	0.96386	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.92699	0.47;-3.09;0.2	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96355	0.8811	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.74674	0.984;0.961;0.961;0.975	D	0.96242	0.9176	10	0.87932	D	0	-14.2076	20.1865	0.98220	0.0:0.0:1.0:0.0	.	398;591;664;673	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	H	673;398;591;117	ENSP00000307491:R673H;ENSP00000445187:R398H;ENSP00000379557:R591H	ENSP00000307491:R673H	R	+	2	0	WDR48	39111222	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.799000	0.99117	2.775000	0.95449	0.655000	0.94253	CGT		TCGA-2J-AAB4-01A-12D-A40W-08	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	1	0	1	73	371	0	92	1	9.919798e-01	6	34	0	92	2		0	0	0	0	0	2	1	1.000000	72	370	0	89	2								-20.000000	1	1	121412	4	37	1	0	1	1	2.008791	0	0.300000	1.950000	0.297894	0.990000	8.700000e-01	1.000000	1.000000	0.987584	0.990000	1	9.700000e-01	1
ADAMTS9	56999	broad.mit.edu	37	3	64526867	64526867	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:64526867G>A	ENST00000498707.1	-	36	5767	c.5425C>T	c.(5425-5427)Cgg>Tgg	p.R1809W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1781W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9			100		Lung NSC(201;0.00682)			TCATCGCGCCGGCTCCCGTTA	0.473000																								0							SO:0001583	missense			ENST00000498707.1	1	1	hg19	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156860	0.57259	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.19394	2.15;2.15	5.73	3.76	0.43208	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57015	-0.7883	10	0.87932	D	0	.	13.0992	0.59210	0.0:0.0:0.6673:0.3327	.	1781;1809	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	W	1781;1809	ENSP00000295903:R1781W;ENSP00000418735:R1809W	ENSP00000295903:R1781W	R	-	1	2	ADAMTS9	64501907	1.000000	0.71417	0.998000	0.56505	0.359000	0.29487	2.444000	0.44890	2.706000	0.92434	0.655000	0.94253	CGG		TCGA-2J-AAB4-01A-12D-A40W-08	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1	1	0	1	84	384	0	116	1	9.586280e-01	5	21	0	116	2		0	0	0	0	0	2	1	1.000000	83	375	0	116	2								-20.000000	1	1	121412	1	32	1	0	1	1	2.008791	0	0.300000	1.950000	0.297894	0.990000	9.600000e-01	1.000000	1.000000	0.998181	0.990000	1	9.900000e-01	1
PPP4R2	151987	broad.mit.edu	37	3	73047308	73047308	+	Splice_Site	SNP	A	A	G	rs150423598		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:73047308A>G	ENST00000356692.5	+	2	368	c.115A>G	c.(115-117)Atg>Gtg	p.M39V	PPP4R2_ENST00000295862.9_5'UTR|PPP4R2_ENST00000495566.1_Splice_Site_p.M39V|PPP4R2_ENST00000394284.3_Splice_Site_p.I39V			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2			12		Prostate(10;0.0187)|Lung SC(41;0.236)			TGGAGAAACAATGTGAGTTGA	0.348000																								0							SO:0001630	splice_region_variant			ENST00000356692.5	0	0	hg19	CCDS2917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.536|9.536	1.112046|1.112046	0.20795|0.20795	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163605|ENSG00000163605	ENST00000394284|ENST00000356692;ENST00000488810;ENST00000495566;ENST00000476505	T|T;T;T;T	0.40756|0.39406	1.02|1.08;1.08;1.08;1.08	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.122413	.|0.64402	.|D	.|0.000001	T|T	0.25606|0.25606	0.0623|0.0623	N|N	0.20328|0.20328	0.56|0.56	0.80722|0.80722	D|D	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.11179|0.11179	-1.0598|-1.0598	8|9	.|.	.|.	.|.	.|.	9.1019|9.1019	0.36673|0.36673	0.9171:0.0:0.0829:0.0|0.9171:0.0:0.0829:0.0	.|.	39|39	Q9NY27-2|Q9NY27	.|PP4R2_HUMAN	V|V	39|39;39;39;1	ENSP00000377825:I39V|ENSP00000349124:M39V;ENSP00000418750:M39V;ENSP00000418675:M39V;ENSP00000420098:M1V	.|.	I|M	+|+	1|1	0|0	PPP4R2|PPP4R2	73129998|73129998	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.326000|3.326000	0.52037|0.52037	2.077000|2.077000	0.62373|0.62373	0.533000|0.533000	0.62120|0.62120	ATT|ATG		TCGA-2J-AAB4-01A-12D-A40W-08	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	1	0	1	70	478	0	155	0	9.609307e-01	1	37	0	155	2		0	0	0	0	0	2	1	1.000000	70	472	0	155	2								-20.000000	1	1	121410	1	36	1	0	1	1	2.008791	0	0.300000	1.950000	0.297894	0.840000	6.700000e-01	1.000000	1.000000	0.851242	0.840000	0	7.500000e-01	9.500000e-01
EVC	2121	broad.mit.edu	37	4	5800472	5800472	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:5800472C>T	ENST00000264956.6	+	15	2441	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Missense_Mutation_p.R753W	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome			28		Myeloproliferative disorder(84;0.117)			GGTGCATGCACGGAATGCAGC	0.637000																								0							SO:0001583	missense			ENST00000264956.6	0	1	hg19	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988209	0.35036	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.59906	0.23;0.23	5.08	4.21	0.49690	.	0.273076	0.32640	N	0.005837	T	0.72334	0.3447	M	0.66939	2.045	0.38150	D	0.938729	D	0.89917	1.0	D	0.87578	0.998	T	0.76602	-0.2899	10	0.62326	D	0.03	.	12.2208	0.54433	0.178:0.822:0.0:0.0	.	753	P57679	EVC_HUMAN	W	753	ENSP00000264956:R753W;ENSP00000372120:R753W	ENSP00000264956:R753W	R	+	1	2	EVC	5851373	0.143000	0.22626	0.024000	0.17045	0.027000	0.11550	0.701000	0.25616	1.068000	0.40764	0.561000	0.74099	CGG		TCGA-2J-AAB4-01A-12D-A40W-08	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1	1	0	0	8	74	0	11	0	9.700929e-02	0	5	0	11	2		0	0	0	0	0	2	1	0.990089	8	73	0	11	2								-13.816400	1	1	121222	2	26	1	0	0	0	1.999802	0	0.300000	1.950000	0.295775	0.660000	3.200000e-01	1.000000	1.000000	0.678718	0.660000	0	4.700000e-01	8.900000e-01
PCDHA11	56138	broad.mit.edu	37	5	140250312	140250312	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr5:140250312C>T	ENST00000398640.2	+	1	1624	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11			2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGCGGGCGTGCCGCCTCTGAG	0.692000																								0							SO:0001583	missense			ENST00000398640.2	0	1	hg19	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788483	0.70337	.	.	ENSG00000249158	ENST00000398640	T	0.56776	0.44	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78698	0.4324	M	0.92026	3.265	0.35643	D	0.811176	D;D	0.89917	1.0;1.0	D;D	0.71414	0.969;0.973	D	0.87476	0.2417	9	0.87932	D	0	.	18.2779	0.90089	0.0:1.0:0.0:0.0	.	542;542	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	542	ENSP00000381636:P542S	ENSP00000381636:P542S	P	+	1	0	PCDHA11	140230496	0.999000	0.42202	0.994000	0.49952	0.949000	0.60115	5.585000	0.67497	2.398000	0.81561	0.556000	0.70494	CCG		TCGA-2J-AAB4-01A-12D-A40W-08	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	0	0	0	7	661	0	159		0	0	0	0	159	2		0	0	0	0	0	2	1	0.977381	8	631	0	156	2								-2.017701	0	1	0	0		1	1	2	3	2.015780	0	0.300000	1.950000	0.301048	0.070000	2.000000e-02	0.140000	0.070000	0.079458	0.070000	0	4.000000e-02	1.100000e-01
SYNE1	23345	broad.mit.edu	37	6	152539461	152539461	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:152539461T>C	ENST00000367255.5	-	121	22723	c.22122A>G	c.(22120-22122)atA>atG	p.I7374M	SYNE1_ENST00000341594.5_Missense_Mutation_p.I6986M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7374M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1898M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I7303M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1			524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)		GCCCTTGTAGTATTTCTTCAG	0.433000										HNSCC(10;0.0054)														0							SO:0001583	missense			ENST00000367255.5	1	1	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839662	0.32513	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.68	-11.4	0.00090	.	0.421595	0.22458	N	0.059793	T	0.14917	0.0360	L	0.34521	1.04	0.09310	N	1	P;P;P;P	0.48764	0.915;0.915;0.896;0.915	P;P;P;P	0.52514	0.701;0.701;0.575;0.701	T	0.26538	-1.0100	10	0.46703	T	0.11	.	1.5785	0.02629	0.2272:0.2006:0.369:0.2032	.	7374;7374;7303;7303	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	M	7374;20;7303;7374;7303;6986;1898;296	ENSP00000356224:I7374M;ENSP00000356226:I20M;ENSP00000396024:I7303M;ENSP00000265368:I7374M;ENSP00000390975:I7303M;ENSP00000341887:I6986M;ENSP00000349276:I1898M;ENSP00000356220:I296M	ENSP00000265368:I7374M	I	-	3	3	SYNE1	152581154	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-1.289000	0.02780	-2.729000	0.00385	-0.321000	0.08615	ATA		TCGA-2J-AAB4-01A-12D-A40W-08	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	1	0	1	206	1185	0	330	0	7.399696e-01	0	17	0	330	2		0	0	0	0	0	2	1	1.000000	202	1166	0	328	2								-20.000000	1	1	0	0		1	0	0	0	2.000252	0	0.300000	1.950000	0.295775	0.970000	8.500000e-01	1.000000	1.000000	0.965202	0.970000	1	9.100000e-01	1
GABBR1	2550	broad.mit.edu	37	6	29574715	29574715	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:29574715C>T	ENST00000377034.4	-	18	2511	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	GABBR1_ENST00000355973.3_Missense_Mutation_p.A609T|GABBR1_ENST00000377016.4_Missense_Mutation_p.A664T|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Missense_Mutation_p.A609T	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	p.A726T(1)		47				Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TGCCAGATGGCGAGAGTGAGG	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000377034.4	1	1	hg19	CCDS4663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.202|8.202	0.798448|0.798448	0.16397|0.16397	.|.	.|.	ENSG00000204681|ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034|ENST00000485026	D;D;D;D|.	0.87491|.	-2.26;-2.26;-2.26;-2.26|.	4.27|4.27	4.27|4.27	0.50696|0.50696	GPCR, family 3, C-terminal (2);|.	0.374080|.	0.26109|.	N|.	0.026294|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.01624|0.01624	-0.795|-0.795	0.47308|0.47308	D|D	0.999387|0.999387	P;P;P|.	0.48503|.	0.911;0.91;0.91|.	B;B;B|.	0.38056|.	0.224;0.264;0.195|.	T|T	0.16100|0.16100	-1.0414|-1.0414	10|5	0.14656|.	T|.	0.56|.	-14.1093|-14.1093	14.5609|14.5609	0.68136|0.68136	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	664;726;609|.	Q9UBS5-3;Q9UBS5;Q5SUJ9|.	.;GABR1_HUMAN;.|.	T|H	609;664;609;726|106	ENSP00000348248:A609T;ENSP00000366215:A664T;ENSP00000366211:A609T;ENSP00000366233:A726T|.	ENSP00000348248:A609T|.	A|R	-|-	1|2	0|0	GABBR1|GABBR1	29682694|29682694	0.852000|0.852000	0.29690|0.29690	0.930000|0.930000	0.37139|0.37139	0.882000|0.882000	0.50991|0.50991	1.632000|1.632000	0.37102|0.37102	2.075000|2.075000	0.62263|0.62263	0.563000|0.563000	0.77884|0.77884	GCC|CGC		TCGA-2J-AAB4-01A-12D-A40W-08	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3	1	0	1	35	207	0	48	1	9.867191e-01	5	38	0	48	2		0	0	0	0	0	2	1	1.000000	34	204	0	48	2								-3.228534	1	1	121408	1	32	1	0	1	1	1.716742	1	0.300000	1.950000	0.179367	0.800000	5.800000e-01	0.990000	0.810000	0.805092	0.800000	0	6.800000e-01	9.200000e-01
ABCC10	89845	broad.mit.edu	37	6	43413586	43413586	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:43413586C>T	ENST00000372530.4	+	15	3495	c.3280C>T	c.(3280-3282)Cgc>Tgc	p.R1094C	ABCC10_ENST00000244533.3_Missense_Mutation_p.R1066C	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10			56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)	Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGAGCTGCGGCGCCTGGGCAG	0.652000																								0							SO:0001583	missense			ENST00000372530.4	1	1	hg19	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299799	0.81136	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.94376	-3.41;-3.41	4.81	3.92	0.45320	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98014	1.0367	10	0.87932	D	0	-11.614	12.2499	0.54591	0.3088:0.6912:0.0:0.0	.	1066;1094	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	C	1094;1066	ENSP00000361608:R1094C;ENSP00000244533:R1066C	ENSP00000244533:R1066C	R	+	1	0	ABCC10	43521564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.755000	0.68750	1.200000	0.43188	0.655000	0.94253	CGC		TCGA-2J-AAB4-01A-12D-A40W-08	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	1	0	1	39	221	0	42	1	9.322959e-01	7	21	0	42	2		0	0	0	0	0	2	1	1.000000	38	214	0	42	2								-3.231492	1	1	121400	5	37	1	0	0	0	2.000252	0	0.300000	1.950000	0.295775	0.980000	7.200000e-01	1.000000	1.000000	0.943224	0.980000	1	8.500000e-01	1
KLHL31	401265	broad.mit.edu	37	6	53519025	53519025	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:53519025G>A	ENST00000407079.1	-	1	1045	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	KLHL31_ENST00000370905.3_Missense_Mutation_p.T349M			Q9H511	KLH31_HUMAN	kelch-like family member 31			20	Lung NSC(77;0.0158)				TGGCATTTCCGTAAGCTTGCT	0.483000																								0							SO:0001583	missense			ENST00000407079.1	0	1	hg19	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453374	0.63290	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68025	-0.3;-0.3	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.095468	0.64402	D	0.000001	T	0.75852	0.3906	M	0.82716	2.605	0.58432	D	0.999994	D	0.76494	0.999	P	0.57283	0.817	T	0.80621	-0.1301	10	0.87932	D	0	.	15.4902	0.75600	0.0:0.1482:0.8518:0.0	.	349	Q9H511	KLH31_HUMAN	M	349	ENSP00000359942:T349M;ENSP00000384644:T349M	ENSP00000359942:T349M	T	-	2	0	KLHL31	53626984	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.818000	0.86416	2.467000	0.83353	0.561000	0.74099	ACG		TCGA-2J-AAB4-01A-12D-A40W-08	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	0	0	0	5	358	0	102	0	3.143948e-04	0	2	0	102	2		0	0	0	0	0	2	1	0.936587	5	355	0	102	2								-2.509486	1	1	0	0		1	0	0	0	2.000252	0	0.300000	1.950000	0.295775	0.090000	3.000000e-02	0.200000	0.090000	0.108222	0.090000	0	5.000000e-02	1.500000e-01
DNAH11	8701	broad.mit.edu	37	7	21727066	21727066	+	Silent	SNP	C	C	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:21727066C>A	ENST00000409508.3	+	34	5876	c.5845C>A	c.(5845-5847)Cga>Aga	p.R1949R	DNAH11_ENST00000328843.6_Silent_p.R1956R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11			230					TGAGTTCAACCGAATCTCTGT	0.443000									Kartagener syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	1	1	hg19																																																																																					TCGA-2J-AAB4-01A-12D-A40W-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1	21	114	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.999998	20	112	0	32	2								-3.016489	1	1	121396	2	35	1	0	0	0	2.006018	0	0.300000	1.950000	0.295775	0.990000	6.700000e-01	1.000000	1.000000	0.940766	0.990000	1	8.300000e-01	1
HECW1	23072	broad.mit.edu	37	7	43580819	43580819	+	Silent	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:43580819C>T	ENST00000395891.2	+	25	4682	c.4077C>T	c.(4075-4077)gaC>gaT	p.D1359D	HECW1_ENST00000453890.1_Silent_p.D1325D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1			125					ACCTTCTTGACGCTTTCTTCA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000395891.2	1	1	hg19	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	7.599	0.672376	0.14776	.	.	ENSG00000002746	ENST00000429529	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.64260	0.2582	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77778	-0.2460	4	.	.	.	.	19.7666	0.96346	0.0:0.5708:0.0:0.4292	.	.	.	.	M	83	.	.	T	+	2	0	HECW1	43547344	0.161000	0.22892	0.071000	0.20095	0.828000	0.46876	-0.564000	0.05936	-2.493000	0.00515	-0.965000	0.02619	ACG		TCGA-2J-AAB4-01A-12D-A40W-08	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	0	48	425	0	100	0	1.083591e-02	0	2	0	100	2		0	0	0	0	0	2	1	1.000000	48	424	0	98	2								-16.041640	1	1	120934	1	27	1	0	0	0	2.006018	0	0.300000	1.950000	0.295775	0.670000	5.000000e-01	0.860000	0.670000	0.680132	0.670000	0	5.800000e-01	7.700000e-01
SUMF2	25870	broad.mit.edu	37	7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:56142409C>T	ENST00000413756.1	+	5	538	c.515C>T	c.(514-516)gCc>gTc	p.A172V	SUMF2_ENST00000434526.2_Missense_Mutation_p.A191V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2			14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		TGGGAGTTTGCCGCCCGAGGG	0.567000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000413756.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.686691	0.96784	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28	5.53	5.53	0.82687	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.951	D	0.99226	1.0880	10	0.87932	D	0	-11.665	18.8414	0.92186	0.0:1.0:0.0:0.0	.	176;172;191	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	V	176;191;84;194;191;172;189	ENSP00000378824:A176V;ENSP00000400922:A191V;ENSP00000275607:A84V;ENSP00000414434:A194V;ENSP00000341938:A191V;ENSP00000406445:A172V;ENSP00000410796:A189V	ENSP00000275607:A84V	A	+	2	0	SUMF2	56109903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.777000	0.95525	0.591000	0.81541	GCC		TCGA-2J-AAB4-01A-12D-A40W-08	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	0	0	0	6	435	0	105	0	9.294211e-01	0	345	0	105	2		0	0	0	0	0	2	1	0.963187	6	428	0	103	2								-1.915724	0	1	0	0		1	0	0	0	2.006018	0	0.300000	1.950000	0.295775	0.090000	3.000000e-02	0.190000	0.090000	0.104150	0.090000	0	6.000000e-02	1.400000e-01
ZP3	7784	broad.mit.edu	37	7	76062797	76062797	+	Silent	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:76062797C>T	ENST00000394857.3	+	4	604	c.546C>T	c.(544-546)aaC>aaT	p.N182N	ZP3_ENST00000416245.1_Silent_p.N6N|ZP3_ENST00000336517.4_Silent_p.N131N	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)			7					AGAACTGGAACGCTGAGAAGA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000394857.3	1	1	hg19	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	C	3.906	-0.021105	0.07634	.	.	ENSG00000188372	ENST00000394860	.	.	.	5.4	-2.82	0.05787	.	.	.	.	.	T	0.18593	0.0446	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	-12.4296	1.8203	0.03109	0.1105:0.2938:0.2176:0.3782	.	.	.	.	M	4	.	.	T	+	2	0	ZP3	75900733	0.000000	0.05858	0.006000	0.13384	0.117000	0.20001	-3.225000	0.00550	-0.242000	0.09667	-0.258000	0.10820	ACG		TCGA-2J-AAB4-01A-12D-A40W-08	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1	1	0	1	52	251	0	58	1	7.558091e-01	2	13	0	58	2		0	0	0	0	0	2	1	1.000000	51	246	0	58	2								-20.000000	1	1	121410	5	37	1	0	0	0	2.006018	0	0.300000	1.950000	0.295775	0.990000	8.700000e-01	1.000000	1.000000	0.989322	0.990000	1	9.900000e-01	1
ZNF483	158399	broad.mit.edu	37	9	114304261	114304261	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:114304261G>A	ENST00000309235.5	+	6	1204	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	p.R349H(1)		31					GTTCTGAACCGCAAGGAGAAA	0.423000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000309235.5	0	1	hg19	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281994	0.23392	.	.	ENSG00000173258	ENST00000309235	T	0.04917	3.53	4.55	2.71	0.32032	.	0.470780	0.18592	N	0.136701	T	0.01489	0.0048	N	0.00138	-2.015	0.25163	N	0.990339	B	0.18968	0.032	B	0.10450	0.005	T	0.43798	-0.9369	10	0.30854	T	0.27	-6.2832	9.1112	0.36730	0.1807:0.0:0.8193:0.0	.	349	Q8TF39	ZN483_HUMAN	H	349	ENSP00000311679:R349H	ENSP00000311679:R349H	R	+	2	0	ZNF483	113344082	0.000000	0.05858	0.765000	0.31456	0.035000	0.12851	0.761000	0.26489	0.858000	0.35431	-0.150000	0.13652	CGC		TCGA-2J-AAB4-01A-12D-A40W-08	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	0	0	0	9	693	0	167	0	0	0	1	0	167	2		0	0	0	0	0	2	1	0.993865	9	683	0	167	2								-2.058381	0	1	121412	4	41	1	0	0	0	2.001353	0	0.300000	1.950000	0.295775	0.080000	3.000000e-02	0.160000	0.080000	0.093809	0.080000	0	5.000000e-02	1.200000e-01
DENND1A	57706	broad.mit.edu	37	9	126144428	126144428	+	Silent	SNP	G	G	C			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:126144428G>C	ENST00000373624.2	-	22	2514	c.2313C>G	c.(2311-2313)ggC>ggG	p.G771G	DENND1A_ENST00000542603.1_Silent_p.G556G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G782G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A			43					CAGCCCCGGGGCCAGGGCTGA	0.716000																								0							SO:0001819	synonymous_variant			ENST00000373624.2	0	1	hg19	CCDS35133.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	1	0	0	11	51	0	12	1	3.859287e-01	2	5	0	12	2		0	0	0	0	0	2	1	0.998611	11	49	0	12	2								-19.934610	1	1	0	0		1	1	2	3	2.021689	0	0.300000	1.950000	0.302094	0.990000	6.500000e-01	1.000000	1.000000	0.958306	0.990000	1	8.900000e-01	1
KCNV2	169522	broad.mit.edu	37	9	2718192	2718192	+	Silent	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:2718192C>T	ENST00000382082.3	+	1	691	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2			35					AATACTTCTTCGACCGCGACC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000382082.3	0	1	hg19	CCDS6447.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	1	0	1	8	69	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	0.990670	8	69	0	13	2								-14.404920	1	1	121358	3	29	1	0	0	0	2.001353	0	0.300000	1.950000	0.295775	0.700000	3.400000e-01	1.000000	1.000000	0.714261	0.700000	0	5.000000e-01	9.500000e-01
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:372257C>T	ENST00000453981.1	+	18	2192	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8			65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)			GGAAAAATTGCCACCCAACTA	0.448000																								0							SO:0001583	missense			ENST00000453981.1	0	1	hg19	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	DOCK8	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA		TCGA-2J-AAB4-01A-12D-A40W-08	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	0	0	0	5	430	1	84	0	2.115534e-03	0	5	1	84	2		0	0	0	0	0	2	0	0.004233	5	423	1	83	18								-2.040655	0	1	0	0		1	0	0	0	2.001353	0	0.300000	1.950000	0.295775	0.080000	2.000000e-02	0.170000	0.080000	0.090490	0.080000	0	4.000000e-02	1.300000e-01
RLN2	6019	broad.mit.edu	37	9	5304440	5304440	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2			11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)			TGCTCATGCCGCAAATGGCAA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000381627.3	0	1	hg19	CCDS6460.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	0	0	0	6	222	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	0.964115	6	219	0	65	2								-3.071627	1	1	121400	1	34	1	0	0	0	2.001353	0	0.300000	1.950000	0.295775	0.180000	7.000000e-02	0.350000	0.170000	0.199585	0.180000	0	1.200000e-01	2.700000e-01
GK	2710	broad.mit.edu	37	X	30718984	30718984	+	Silent	SNP	G	G	A			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:30718984G>A	ENST00000378943.3	+	10	974	c.795G>A	c.(793-795)gtG>gtA	p.V265V	GK_ENST00000378945.3_Silent_p.V265V|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378946.3_Silent_p.V271V|GK_ENST00000427190.1_Silent_p.V66V|RP11-242C19.2_ENST00000497961.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase			4					CTGCATTGGTGGGACAAATGT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000378943.3	1	1	hg19	CCDS48090.1																																																																																				TCGA-2J-AAB4-01A-12D-A40W-08	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	1	0	1	58	126	0	67	0	8.690327e-01	1	9	0	67	2		0	0	0	0	0	2	1	1.000000	58	126	0	66	2								-6.638431	1	1	0	0		1	0	1	1			0.300000	1.950000	0.300000	0.930000	7.800000e-01	1.000000	0.990000	0.930090	0.930000	1	8.600000e-01	9.900000e-01
