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
EVX2	344191	broad.mit.edu	37	2	176945342	176945368	+	In_Frame_Del	DEL	AGCCGCGGCCGCCGCGCCTGAGGCTGC	AGCCGCGGCCGCCGCGCCTGAGGCTGC	-			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:176945342_176945368delAGCCGCGGCCGCCGCGCCTGAGGCTGC	ENST00000308618.4	-	3	1034_1060	c.898_924delGCAGCCTCAGGCGCGGCGGCCGCGGCT	c.(898-924)gcagcctcaggcgcggcggccgcggctdel	p.AASGAAAAA300del		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2			16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)		AGGGCGACGAAgccgcggccgccgcgcctgaggctgcagccgcggcc	0.731000																								0							SO:0001651	inframe_deletion			ENST00000308618.4	0	1	hg19	CCDS33333.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1	0	0	0	13	29	0	3			0	0	0	3									2	0.021576	41	61	6	9	51								-20.000000	1	0	0	0		1	0	0	0	2.048692	0	0.630000	1.870000	0.625279	0.960000	5.800000e-01	1.000000	1.000000	0.905359	0.960000	1	0.760000	1.000000
GOT1	2805	broad.mit.edu	37	10	101166530	101166530	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:101166530C>A	ENST00000370508.5	-	3	404	c.377G>T	c.(376-378)gGa>gTa	p.G126V	GOT1_ENST00000543866.1_Missense_Mutation_p.G105V	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble			16		Ovarian(717;0.028)|Colorectal(252;0.234)		L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GTTGTTTGTTCCATTGTACCA	0.468000													Melanoma(173;770 3544 21601)											0							SO:0001583	missense			ENST00000370508.5	0	1	hg19	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596653	0.86953	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	T;T	0.20738	2.05;2.05	5.92	5.92	0.95590	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.33137	0.985	0.80722	D	1	B	0.25772	0.134	B	0.27608	0.081	T	0.05733	-1.0867	10	0.17369	T	0.5	-3.717	19.9135	0.97033	0.0:1.0:0.0:0.0	.	126	P17174	AATC_HUMAN	V	126;79;105	ENSP00000359539:G126V;ENSP00000445578:G105V	ENSP00000359539:G126V	G	-	2	0	GOT1	101156520	1.000000	0.71417	0.972000	0.41901	0.891000	0.51852	7.379000	0.79691	2.807000	0.96579	0.549000	0.68633	GGA		TCGA-FB-AAQ6-01A-11D-A40W-08	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	0	0	0	52	100	0	49	1	1	22	37	0	49	2								1	1.000000	52	99	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.112726	0	0.630000	1.870000	0.632316	0.990000	8.500000e-01	1.000000	1.000000	0.985565	0.990000	1	0.960000	1.000000
ABCC2	1244	broad.mit.edu	37	10	101563916	101563916	+	Silent	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:101563916A>G	ENST00000370449.4	+	10	1463	c.1350A>G	c.(1348-1350)ttA>ttG	p.L450L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2			67		Colorectal(252;0.234)		Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGATTGTCTTATCTATCTTCT	0.463000																								0							SO:0001819	synonymous_variant			ENST00000370449.4	0	1	hg19	CCDS7484.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	0	0	0	50	245	0	90		0	0	0	0	90	2								1	1.000000	49	243	0	90	2								-20.000000	1	1	0	0		1	1	2	3	2.112726	0	0.630000	1.870000	0.632316	0.540000	4.100000e-01	0.710000	0.540000	0.551923	0.540000	0	0.470000	0.620000
C10orf71	118461	broad.mit.edu	37	10	50532116	50532116	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:50532116G>A	ENST00000374144.3	+	3	1814	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	C10orf71_ENST00000323868.4_Missense_Mutation_p.R509H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71			1					GTGCGGAAGCGTGTTAAGAGC	0.493000																								0							SO:0001583	missense			ENST00000374144.3	0	1	hg19	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552873	0.86127	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.20881	2.04;3.13	5.48	4.57	0.56435	.	0.401374	0.18493	N	0.139596	T	0.22244	0.0536	M	0.64997	1.995	0.42570	D	0.993178	P	0.46859	0.885	B	0.35688	0.208	T	0.10428	-1.0630	10	0.87932	D	0	.	14.0709	0.64858	0.0726:0.0:0.9274:0.0	.	509	Q711Q0-3	.	H	509	ENSP00000318713:R509H;ENSP00000363259:R509H	ENSP00000318713:R509H	R	+	2	0	C10orf71	50202122	0.918000	0.31147	0.862000	0.33874	0.940000	0.58332	3.531000	0.53546	1.320000	0.45209	0.586000	0.80456	CGT		TCGA-FB-AAQ6-01A-11D-A40W-08	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	0	0	0	50	124	0	62		0	0	0	0	62	2								1	1.000000	49	121	0	61	2								-20.000000	1	1	121036	7	36	1	1	2	3	2.112726	0	0.630000	1.870000	0.632316	0.910000	7.100000e-01	1.000000	1.000000	0.907731	0.910000	1	0.800000	1.000000
CSTF2T	23283	broad.mit.edu	37	10	53458724	53458724	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr10:53458724G>T	ENST00000331173.4	-	1	631	c.586C>A	c.(586-588)Cat>Aat	p.H196N	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant			30					GGTGTGACATGTATCTTCCGA	0.512000																								0							SO:0001583	missense			ENST00000331173.4	0	1	hg19	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	0.601	-0.829212	0.02734	.	.	ENSG00000177613	ENST00000331173	T	0.19669	2.13	5.1	4.13	0.48395	.	0.669626	0.15530	N	0.257547	T	0.05410	0.0143	N	0.00583	-1.355	0.25045	N	0.991177	B	0.09022	0.002	B	0.01281	0.0	T	0.29397	-1.0013	10	0.09590	T	0.72	-4.1716	10.3859	0.44140	0.0:0.0:0.8051:0.1949	.	196	Q9H0L4	CSTFT_HUMAN	N	196	ENSP00000332444:H196N	ENSP00000332444:H196N	H	-	1	0	CSTF2T	53128730	0.160000	0.22878	0.948000	0.38648	0.987000	0.75469	1.930000	0.40124	2.824000	0.97209	0.655000	0.94253	CAT		TCGA-FB-AAQ6-01A-11D-A40W-08	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	0	0	0	94	196	0	100	1	9.980352e-01	15	8	0	100	2								1	1.000000	94	193	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.112726	0	0.630000	1.870000	0.632316	0.990000	8.600000e-01	1.000000	1.000000	0.980943	0.990000	1	0.940000	1.000000
C11orf87	399947	broad.mit.edu	37	11	109294680	109294680	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:109294680C>T	ENST00000327419.6	+	2	724	c.321C>T	c.(319-321)agC>agT	p.S107S	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	p.S107S(1)		17					ATCACTGCAGCGGCAGCCGCG	0.642000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000327419.6	0	1	hg19	CCDS31672.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	0	0	0	116	317	0	135		0	0	0	0	135	2								1	1.000000	93	277	0	118	2								-20.000000	1	1	121394	4	41	1	0	0	0	2.071234	0	0.630000	1.870000	0.627654	0.840000	7.100000e-01	0.970000	0.850000	0.846975	0.840000	0	0.770000	0.910000
PCSK7	9159	broad.mit.edu	37	11	117079612	117079612	+	Splice_Site	SNP	C	C	T	rs145370185	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:117079612C>T	ENST00000320934.3	-	13	2322		c.e13+1		PCSK7_ENST00000529458.1_5'Flank|PCSK7_ENST00000540028.1_Splice_Site	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7			16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)			GGTGTACATACGAGTCCATGC	0.582000			T	IGH@	MLCLS										Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0							SO:0001630	splice_region_variant			ENST00000320934.3	0	1	hg19	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637607	0.29157	4.54E-4	0.001979	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0225	0.58796	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK7	116584822	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	7.075000	0.76798	2.531000	0.85337	0.467000	0.42956	.		TCGA-FB-AAQ6-01A-11D-A40W-08	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	0	0	0	13	57	0	19	0	3.995434e-02	1	1	0	19	2								1	0.999710	13	57	0	19	2								-2.816350	1	1	121410	170	47	1	0	0	0	2.071234	0	0.630000	1.870000	0.627654	0.590000	3.400000e-01	0.890000	0.580000	0.607820	0.590000	0	0.450000	0.750000
B3GAT1	27087	broad.mit.edu	37	11	134253672	134253672	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:134253672G>A	ENST00000524765.1	-	3	5067	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	B3GAT1_ENST00000392580.1_Missense_Mutation_p.R175C|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R175C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R188C|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1			19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)			CGCAGCCAGCGCAGGGCCAGG	0.682000																								0							SO:0001583	missense			ENST00000524765.1	0	1	hg19	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765228	0.69878	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.74647	2.275	0.80722	D	1	B;B	0.24576	0.106;0.055	B;B	0.19666	0.015;0.026	T	0.63545	-0.6613	10	0.59425	D	0.04	-29.3285	14.2768	0.66184	0.0:0.0:0.815:0.185	.	188;175	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	C	175;175;175;188	ENSP00000376359:R175C;ENSP00000307875:R175C;ENSP00000433847:R175C;ENSP00000445983:R188C	ENSP00000307875:R175C	R	-	1	0	B3GAT1	133758882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.114000	0.50383	2.623000	0.88846	0.561000	0.74099	CGC		TCGA-FB-AAQ6-01A-11D-A40W-08	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	0	0	0	8	38	0	10		0	0	0	0	10	2								1	0.987727	8	34	0	10	2								-16.214520	1	1	0	0		1	0	0	0	2.071234	0	0.630000	1.870000	0.627654	0.560000	2.700000e-01	0.930000	0.550000	0.582736	0.560000	0	0.400000	0.750000
IGSF22	283284	broad.mit.edu	37	11	18738333	18738333	+	Silent	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:18738333G>A	ENST00000513874.1	-	10	1327	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22			56					AGAACTCGCCGCTGTCACTGA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000513874.1	0	1	hg19	CCDS41625.2																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	0	0	0	81	418	0	145		0	0	0	0	145	2								1	1.000000	79	411	0	143	2								-3.326447	1	1	120984	20	48	1	0	0	0	2.071234	0	0.630000	1.870000	0.627654	0.500000	4.100000e-01	0.610000	0.510000	0.515710	0.500000	0	0.450000	0.570000
MARK2	2011	broad.mit.edu	37	11	63665747	63665747	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:63665747A>G	ENST00000509502.2	+	4	696	c.233A>G	c.(232-234)aAc>aGc	p.N78S	MARK2_ENST00000413835.2_Missense_Mutation_p.N111S|MARK2_ENST00000513765.2_Missense_Mutation_p.N78S|MARK2_ENST00000425897.2_Missense_Mutation_p.N78S|MARK2_ENST00000502399.3_Missense_Mutation_p.N111S|MARK2_ENST00000408948.3_Missense_Mutation_p.N78S|MARK2_ENST00000350490.7_Missense_Mutation_p.N111S|MARK2_ENST00000361128.5_Missense_Mutation_p.N111S|MARK2_ENST00000377810.3_Missense_Mutation_p.N78S|MARK2_ENST00000402010.2_Missense_Mutation_p.N111S|MARK2_ENST00000508192.1_Missense_Mutation_p.N111S|MARK2_ENST00000377809.4_Missense_Mutation_p.N111S|MARK2_ENST00000315032.8_Missense_Mutation_p.N111S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2			33					AATCATCCCAACATAGGTGAG	0.478000																								0							SO:0001583	missense			ENST00000509502.2	0	1	hg19	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683613	0.88639	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.80508	2.5	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;0.998;0.939;0.999;1.0;0.987	D;P;P;D;D;P	0.87578	0.996;0.796;0.448;0.982;0.998;0.719	T	0.67677	-0.5609	10	0.87932	D	0	.	14.1235	0.65205	1.0:0.0:0.0:0.0	.	78;78;111;111;111;111	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	111;111;111;111;78;111;111;111;111;78;78;78;78;78;78	ENSP00000385751:N111S;ENSP00000326632:N111S;ENSP00000367040:N111S;ENSP00000389184:N111S;ENSP00000367041:N78S;ENSP00000425765:N111S;ENSP00000355091:N111S;ENSP00000294247:N111S;ENSP00000444956:N78S;ENSP00000437509:N78S;ENSP00000423974:N78S;ENSP00000421075:N78S;ENSP00000386128:N78S;ENSP00000415494:N78S	ENSP00000326632:N111S	N	+	2	0	MARK2	63422323	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.117000	0.94347	2.171000	0.68590	0.460000	0.39030	AAC		TCGA-FB-AAQ6-01A-11D-A40W-08	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	0	0	0	174	503	0	229	1	9.638870e-01	8	10	0	229	2								1	1.000000	171	498	0	228	2								-20.000000	1	1	0	0		1	0	0	0	2.071234	0	0.630000	1.870000	0.627654	0.800000	7.000000e-01	0.910000	0.810000	0.812325	0.800000	0	0.750000	0.860000
RNF169	254225	broad.mit.edu	37	11	74521280	74521280	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr11:74521280A>T	ENST00000299563.4	+	3	641	c.628A>T	c.(628-630)Aag>Tag	p.K210*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169			15					TCAAATCCACAAGCTGTTACC	0.348000																								0							SO:0001587	stop_gained			ENST00000299563.4	0	1	hg19	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909386	0.92107	.	.	ENSG00000166439	ENST00000299563	.	.	.	5.89	5.89	0.94794	.	0.177649	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.116	12.7076	0.57070	1.0:0.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000299563:K210X	K	+	1	0	RNF169	74198928	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.003000	0.63959	2.254000	0.74563	0.533000	0.62120	AAG		TCGA-FB-AAQ6-01A-11D-A40W-08	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	0	0	0	5	419	0	206	0	3.279782e-03	0	6	0	206	2								1	0.935930	5	414	0	206	2								-3.144458	1	1	0	0		1	0	0	0	2.071234	0	0.630000	1.870000	0.627654	0.030000	0	0.080000	0.040000	0.044106	0.030000	0	0.010000	0.060000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	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	0	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-FB-AAQ6-01A-11D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	48	170	0	100	1	8.133115e-01	8	5	0	100	2								1	1.000000	47	170	0	100	2								-20.000000	1	1	0	0		1	0	0	0	2.011783	0	0.630000	1.870000	0.615465	0.660000	5.100000e-01	0.840000	0.670000	0.678396	0.660000	0	0.580000	0.760000
KRT82	3888	broad.mit.edu	37	12	52793858	52793858	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:52793858C>T	ENST00000257974.2	-	5	930	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	p.V285M(1)		29					ATGCCGTCCACGTCCAGCTCC	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000257974.2	0	1	hg19	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.181497	0.01633	.	.	ENSG00000161850	ENST00000257974	D	0.88586	-2.4	5.18	1.04	0.20106	Filament (1);	0.532611	0.15770	N	0.245495	T	0.53916	0.1826	N	0.00186	-1.895	0.27603	N	0.948893	B	0.24533	0.105	B	0.21151	0.033	T	0.58393	-0.7644	10	0.10111	T	0.7	.	1.6566	0.02782	0.1103:0.3451:0.2299:0.3147	.	285	Q9NSB4	KRT82_HUMAN	M	285	ENSP00000257974:V285M	ENSP00000257974:V285M	V	-	1	0	KRT82	51080125	0.002000	0.14202	0.002000	0.10522	0.523000	0.34469	-0.851000	0.04313	0.300000	0.22699	0.561000	0.74099	GTG		TCGA-FB-AAQ6-01A-11D-A40W-08	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	0	0	0	6	267	0	74		0	0	0	0	74	2								1	0.962547	6	260	0	74	2								-3.866182	1	1	121412	9	41	1	0	0	0	2.011783	0	0.630000	1.870000	0.615465	0.060000	2.000000e-02	0.140000	0.070000	0.077596	0.060000	0	0.040000	0.110000
C12orf66	144577	broad.mit.edu	37	12	64609707	64609707	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:64609707C>T	ENST00000398055.3	-	2	325	c.272G>A	c.(271-273)cGc>cAc	p.R91H	C12orf66_ENST00000311915.8_Missense_Mutation_p.R91H|C12orf66_ENST00000544871.1_Missense_Mutation_p.R38H	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	p.R91H(1)		5					ATAGATGGTGCGGATGGAATC	0.507000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000398055.3	0	1	hg19	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605524	0.87157	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.42131	0.98;0.98;0.98	5.73	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.98;0.999	P;D	0.64144	0.586;0.922	T	0.57631	-0.7778	9	.	.	.	-9.8646	14.7258	0.69343	0.0:0.9305:0.0:0.0695	.	38;91	F5H2Q3;Q96MD2	.;CL066_HUMAN	H	91;38;91	ENSP00000311486:R91H;ENSP00000445481:R38H;ENSP00000381132:R91H	.	R	-	2	0	C12orf66	62895974	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.518000	0.81795	1.428000	0.47296	0.491000	0.48974	CGC		TCGA-FB-AAQ6-01A-11D-A40W-08	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	0	0	0	28	97	0	35	0	5.351870e-02	0	2	0	35	2								1	1.000000	27	91	0	34	2								-20.000000	1	1	120926	1	25	1	0	0	0	2.011783	0	0.630000	1.870000	0.615465	0.680000	4.800000e-01	0.910000	0.680000	0.693802	0.680000	0	0.570000	0.800000
KCNC2	3747	broad.mit.edu	37	12	75601178	75601178	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr12:75601178C>T	ENST00000549446.1	-	2	1266	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	KCNC2_ENST00000540018.1_Missense_Mutation_p.A196T|KCNC2_ENST00000548513.1_Missense_Mutation_p.A196T|KCNC2_ENST00000341669.3_Missense_Mutation_p.A196T|KCNC2_ENST00000298972.1_Missense_Mutation_p.A196T|KCNC2_ENST00000350228.2_Missense_Mutation_p.A196T|KCNC2_ENST00000393288.2_Missense_Mutation_p.A196T|KCNC2_ENST00000550433.1_Missense_Mutation_p.A196T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2			54				Dalfampridine(DB06637)	CCGAGCCCCGCCGCGTCCTCG	0.716000																								0							SO:0001583	missense			ENST00000549446.1	0	1	hg19	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621045	0.28889	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97328	-4.33;-4.33;-4.32;-4.33;-4.33;-4.32;-4.32;-4.34	4.44	2.54	0.30619	.	.	.	.	.	D	0.92264	0.7546	N	0.08118	0	0.39638	D	0.970289	B;P;B;P;B	0.40332	0.403;0.551;0.411;0.713;0.051	B;B;B;P;B	0.46299	0.04;0.356;0.08;0.511;0.062	D	0.87929	0.2709	9	0.21540	T	0.41	.	9.6841	0.40087	0.1599:0.6863:0.1538:0.0	.	196;196;196;196;196	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	T	196	ENSP00000448301:A196T;ENSP00000449941:A196T;ENSP00000449253:A196T;ENSP00000340121:A196T;ENSP00000298972:A196T;ENSP00000319877:A196T;ENSP00000438423:A196T;ENSP00000376966:A196T	ENSP00000298972:A196T	A	-	1	0	KCNC2	73887445	0.222000	0.23652	0.681000	0.30009	0.804000	0.45430	1.796000	0.38794	0.557000	0.29117	-0.165000	0.13383	GCG		TCGA-FB-AAQ6-01A-11D-A40W-08	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	0	0	0	13	35	0	8		0	0	0	0	8	2								1	0.999704	13	33	0	7	2								-20.000000	1	0	119846	2	36	1	0	0	0	2.011783	0	0.630000	1.870000	0.615465	0.820000	4.900000e-01	1.000000	1.000000	0.820462	0.820000	0	0.640000	1.000000
TRPM1	4308	broad.mit.edu	37	15	31334358	31334358	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:31334358C>A	ENST00000256552.6	-	17	2030	c.1883G>T	c.(1882-1884)aGt>aTt	p.S628I	TRPM1_ENST00000397795.2_Missense_Mutation_p.S606I|TRPM1_ENST00000542188.1_Missense_Mutation_p.S645I|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1			99		all_lung(180;1.92e-11)			CTGGAACCGACTCACGGCAGG	0.517000																								0							SO:0001583	missense			ENST00000256552.6	0	1	hg19	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240885	0.79912	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.69926	-0.44;-0.44;-0.44	4.72	4.72	0.59763	.	0.042793	0.85682	D	0.000000	T	0.62196	0.2408	L	0.40543	1.245	0.80722	D	1	B;P	0.34934	0.137;0.476	B;B	0.36186	0.219;0.157	T	0.67995	-0.5526	10	0.87932	D	0	-20.8878	18.0463	0.89334	0.0:1.0:0.0:0.0	.	600;606	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	606;645;628;606	ENSP00000380897:S606I;ENSP00000437849:S645I;ENSP00000256552:S628I	ENSP00000256552:S628I	S	-	2	0	TRPM1	29121650	1.000000	0.71417	0.905000	0.35620	0.749000	0.42624	7.743000	0.85020	2.304000	0.77564	0.655000	0.94253	AGT		TCGA-FB-AAQ6-01A-11D-A40W-08	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	0	0	0	42	82	0	37		0	0	0	0	37	2								1	1.000000	40	80	0	37	2								-20.000000	1	1	0	0		1	0	0	0	2.074389	0	0.630000	1.870000	0.627654	0.990000	8.100000e-01	1.000000	1.000000	0.975902	0.990000	1	0.930000	1.000000
LCMT2	9836	broad.mit.edu	37	15	43621570	43621570	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:43621570G>C	ENST00000305641.5	-	1	1233	c.1118C>G	c.(1117-1119)gCa>gGa	p.A373G	LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2			20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		L-Leucine(DB00149)	AAATCCTCCTGCACTGAGAAT	0.547000																								0							SO:0001583	missense			ENST00000305641.5	0	1	hg19	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998347	0.35226	.	.	ENSG00000168806	ENST00000305641	T	0.74526	-0.85	5.54	4.62	0.57501	.	0.176134	0.48767	D	0.000180	T	0.64821	0.2633	L	0.47716	1.5	0.31690	N	0.642009	B	0.28128	0.201	B	0.27608	0.081	T	0.65001	-0.6274	10	0.23302	T	0.38	-14.2982	10.1028	0.42515	0.0895:0.0:0.9105:0.0	.	373	O60294	LCMT2_HUMAN	G	373	ENSP00000307214:A373G	ENSP00000307214:A373G	A	-	2	0	LCMT2	41408862	0.163000	0.22920	0.377000	0.26055	0.889000	0.51656	2.230000	0.42999	1.573000	0.49748	0.655000	0.94253	GCA		TCGA-FB-AAQ6-01A-11D-A40W-08	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	0	0	0	69	143	0	53	0	0	0	1	0	53	2								1	1.000000	68	142	0	52	2								-20.000000	1	1	0	0		1	0	0	0	2.091669	0	0.630000	1.870000	0.630000	0.990000	8.300000e-01	1.000000	1.000000	0.975003	0.990000	1	0.920000	1.000000
CHRNB4	1143	broad.mit.edu	37	15	78921685	78921685	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:78921685T>G	ENST00000261751.3	-	5	1073	c.962A>C	c.(961-963)cAc>cCc	p.H321P	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)			22				Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GGGCGAGCGGTGGTGCACATT	0.607000																								0							SO:0001583	missense			ENST00000261751.3	0	1	hg19	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366726	0.82463	.	.	ENSG00000117971	ENST00000261751	T	0.72282	-0.64	5.57	5.57	0.84162	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93552	0.6887	10	0.72032	D	0.01	.	15.3749	0.74596	0.0:0.0:0.0:1.0	.	321	P30926	ACHB4_HUMAN	P	321	ENSP00000261751:H321P	ENSP00000261751:H321P	H	-	2	0	CHRNB4	76708740	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.987000	0.88182	2.130000	0.65690	0.533000	0.62120	CAC		TCGA-FB-AAQ6-01A-11D-A40W-08	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1	0	0	0	65	156	0	69		0	0	0	0	69	2								1	1.000000	62	156	0	68	2								-20.000000	1	1	0	0		1	0	0	0	2.091669	0	0.630000	1.870000	0.630000	0.920000	7.400000e-01	1.000000	1.000000	0.921619	0.920000	1	0.830000	1.000000
ALPK3	57538	broad.mit.edu	37	15	85384098	85384098	+	Silent	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr15:85384098C>A	ENST00000258888.5	+	5	2361	c.2194C>A	c.(2194-2196)Cgg>Agg	p.R732R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3			81			BRCA - Breast invasive adenocarcinoma(143;0.0587)		GCCCCCTGCCCGGCGGAGACA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000258888.5	0	1	hg19	CCDS10333.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	0	0	0	57	114	0	34		0	0	0	0	34	2								1	1.000000	58	111	0	33	2								-7.678165	1	1	0	0		1	0	0	0	2.091669	0	0.630000	1.870000	0.630000	0.990000	8.300000e-01	1.000000	1.000000	0.979104	0.990000	1	0.940000	1.000000
ATF7IP2	80063	broad.mit.edu	37	16	10524582	10524582	+	Silent	SNP	T	T	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr16:10524582T>C	ENST00000396560.2	+	3	332	c.105T>C	c.(103-105)gtT>gtC	p.V35V	ATF7IP2_ENST00000356427.2_Silent_p.V35V|ATF7IP2_ENST00000324570.5_Silent_p.V35V|ATF7IP2_ENST00000396559.1_Silent_p.V35V|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2			3					CAAGGAATGTTGAAGCGCTGA	0.413000																								0							SO:0001819	synonymous_variant			ENST00000396560.2	0	1	hg19	CCDS10540.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	0	0	0	89	199	0	98	0	0	0	1	0	98	2								1	1.000000	88	196	0	97	2								-20.000000	1	1	0	0		1	1	2	3	2.104910	0	0.630000	1.870000	0.631162	0.970000	8.100000e-01	1.000000	1.000000	0.958115	0.970000	1	0.890000	1.000000
MED1	5469	broad.mit.edu	37	17	37564572	37564572	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:37564572G>A	ENST00000300651.6	-	17	4125	c.3902C>T	c.(3901-3903)cCg>cTg	p.P1301L	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1			59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)		TGTCAAGGACGGCTTCTTGTT	0.522000										HNSCC(31;0.082)			Pancreas(21;279 768 2492 4877 24026)											0							SO:0001583	missense			ENST00000300651.6	0	1	hg19	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808847	0.70797	.	.	ENSG00000125686	ENST00000300651	T	0.56275	0.47	5.07	5.07	0.68467	.	.	.	.	.	T	0.62146	0.2404	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66618	-0.5878	9	0.87932	D	0	-5.6283	19.0071	0.92856	0.0:0.0:1.0:0.0	.	1301	Q15648	MED1_HUMAN	L	1301	ENSP00000300651:P1301L	ENSP00000300651:P1301L	P	-	2	0	MED1	34818098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.290000	0.96065	2.793000	0.96121	0.563000	0.77884	CCG		TCGA-FB-AAQ6-01A-11D-A40W-08	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	0	0	0	101	238	0	119	1	7.972502e-01	3	6	0	119	2								1	1.000000	101	233	0	116	2								-7.928147	1	1	121412	2	34	1	1	2	3	2.138624	0	0.630000	1.870000	0.634604	0.950000	8.000000e-01	1.000000	1.000000	0.945571	0.950000	1	0.870000	1.000000
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2			31				Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567000																								0							SO:0001583	missense			ENST00000263088.6	0	1	hg19	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC		TCGA-FB-AAQ6-01A-11D-A40W-08	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	0	0	0	5	290	0	144	0	9.115596e-03	0	7	0	144	2								1	0.935801	6	285	0	144	2								-2.032427	0	1	121412	1	36	1	0	1	1	1.473699	1	0.630000	1.870000	0.474357	0.030000	1.000000e-02	0.080000	0.040000	0.044969	0.030000	0	0.020000	0.060000
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	GRCh37	CM920675	TP53	M	rs11540652	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		TCGA-FB-AAQ6-01A-11D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	0	34	138	0	79	1	9.753028e-01	11	16	0	79	2								1	1.000000	34	137	0	78	2								-2.879491	1	1	121412	7	38	1	0	1	1	1.466783	1	0.630000	1.870000	0.469610	0.430000	3.100000e-01	0.570000	0.440000	0.442560	0.430000	0	0.370000	0.510000
SMAD4	4089	broad.mit.edu	37	18	48591891	48591891	+	Nonsense_Mutation	SNP	G	G	T	rs121912581		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:48591891G>T	ENST00000342988.3	+	9	1592	c.1054G>T	c.(1054-1056)Gga>Tga	p.G352*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*	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)			TACTGTTGATGGATACGTGGA	0.443000																								38	Whole gene deletion(36)|Unknown(2)	GRCh37	CM024126	SMAD4	M	rs121912581	SO:0001587	stop_gained			ENST00000342988.3	0	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	43	10.484127	0.99413	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.048668	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000341551:G352X	G	+	1	0	SMAD4	46845889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.676000	0.98643	2.771000	0.95319	0.563000	0.77884	GGA		TCGA-FB-AAQ6-01A-11D-A40W-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	0	0	112	184	0	165	1	9.077216e-01	2	7	0	165	2								1	1.000000	111	184	0	165	2								-14.850890	1	1	0	0		1	0	1	1	1.460212	1	0.630000	1.870000	0.459854	0.810000	6.900000e-01	0.930000	0.820000	0.820954	0.810000	0	0.750000	0.880000
SMAD4	4089	broad.mit.edu	37	18	48591892	48591892	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr18:48591892G>T	ENST00000342988.3	+	9	1593	c.1055G>T	c.(1054-1056)gGa>gTa	p.G352V	SMAD4_ENST00000588745.1_Missense_Mutation_p.G256V|SMAD4_ENST00000398417.2_Missense_Mutation_p.G352V	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)			ACTGTTGATGGATACGTGGAC	0.443000																								38	Whole gene deletion(36)|Unknown(2)						SO:0001583	missense			ENST00000342988.3	0	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624653	0.87560	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98329	-4.87;-4.87	5.86	4.99	0.66335	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.048668	0.85682	D	0.000000	D	0.99193	0.9720	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99056	1.0829	10	0.87932	D	0	.	13.6642	0.62384	0.075:0.0:0.925:0.0	.	352	Q13485	SMAD4_HUMAN	V	352	ENSP00000341551:G352V;ENSP00000381452:G352V	ENSP00000341551:G352V	G	+	2	0	SMAD4	46845890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.828000	0.86729	1.474000	0.48178	0.563000	0.77884	GGA		TCGA-FB-AAQ6-01A-11D-A40W-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	0	0	114	181	0	163	1	9.153421e-01	2	7	0	163	2								1	1.000000	113	181	0	163	2								-20.000000	1	1	0	0		1	0	1	1	1.460212	1	0.630000	1.870000	0.459854	0.830000	7.100000e-01	0.950000	0.840000	0.837827	0.830000	0	0.770000	0.900000
MYO9B	4650	broad.mit.edu	37	19	17295729	17295729	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:17295729G>A	ENST00000594824.1	+	17	2576	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	MYO9B_ENST00000397274.2_Missense_Mutation_p.R810H|MYO9B_ENST00000595618.1_Missense_Mutation_p.R810H			Q13459	MYO9B_HUMAN	myosin IXB	p.R810H(2)		39					CTGCACGACCGCACCACCAAG	0.582000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000594824.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	27.9	4.871098	0.91587	.	.	ENSG00000099331	ENST00000397274	T	0.72835	-0.69	5.12	5.12	0.69794	Myosin head, motor domain (2);	0.000000	0.53938	D	0.000056	D	0.84220	0.5424	M	0.77313	2.365	0.58432	D	0.999994	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.964;0.964;1.0	D	0.84405	0.0562	10	0.42905	T	0.14	.	17.579	0.87960	0.0:0.0:1.0:0.0	.	810;810;816	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	810	ENSP00000380444:R810H	ENSP00000380444:R810H	R	+	2	0	MYO9B	17156729	1.000000	0.71417	0.985000	0.45067	0.788000	0.44548	9.674000	0.98633	2.395000	0.81488	0.561000	0.74099	CGC		TCGA-FB-AAQ6-01A-11D-A40W-08	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	0	0	0	5	427	0	121	0	2.796942e-02	0	18	0	121	2								1	0.935567	5	421	0	118	2								-2.375082	0	1	0	0		1	0	0	0	2.047941	0	0.630000	1.870000	0.625279	0.030000	0	0.080000	0.040000	0.042996	0.030000	0	0.010000	0.060000
GNA15	2769	broad.mit.edu	37	19	3162865	3162865	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:3162865G>A	ENST00000262958.3	+	7	1231	c.973G>A	c.(973-975)Gac>Aac	p.D325N		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)			18		Hepatocellular(1079;0.137)			CGGGTGCGTGGACGGCCCCGA	0.597000											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000262958.3	0	1	hg19	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	g	9.418	1.082262	0.20309	.	.	ENSG00000060558	ENST00000262958	D	0.88509	-2.39	3.67	2.6	0.31112	.	0.720175	0.11882	N	0.520430	T	0.80919	0.4716	N	0.14661	0.345	0.09310	N	1	B	0.30542	0.284	B	0.33568	0.166	T	0.71797	-0.4484	10	0.59425	D	0.04	.	10.6388	0.45582	0.0:0.1971:0.8029:0.0	.	325	P30679	GNA15_HUMAN	N	325	ENSP00000262958:D325N	ENSP00000262958:D325N	D	+	1	0	GNA15	3113865	0.109000	0.22037	0.004000	0.12327	0.002000	0.02628	3.225000	0.51246	0.722000	0.32252	0.561000	0.74099	GAC		TCGA-FB-AAQ6-01A-11D-A40W-08	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	0	0	0	76	162	0	61	1	9.999994e-01	21	29	0	61	2								1	1.000000	75	156	0	61	2								-20.000000	1	1	0	0		1	0	0	0	2.047941	0	0.630000	1.870000	0.625279	0.990000	8.100000e-01	1.000000	1.000000	0.963938	0.990000	1	0.900000	1.000000
PRX	57716	broad.mit.edu	37	19	40901569	40901569	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:40901569C>T	ENST00000324001.7	-	7	2960	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin			47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		AGAGGGCACTCGGAAGCCCAC	0.612000																								0							SO:0001583	missense			ENST00000324001.7	0	1	hg19	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931525	0.34096	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01099	5.34	5.3	4.21	0.49690	.	0.354983	0.20353	N	0.094003	T	0.00724	0.0024	N	0.17082	0.46	0.37414	D	0.913344	B	0.33494	0.414	B	0.21360	0.034	T	0.64554	-0.6380	10	0.29301	T	0.29	-8.6739	4.1775	0.10358	0.0:0.6832:0.0:0.3168	.	897	Q9BXM0	PRAX_HUMAN	Q	897	ENSP00000326018:R897Q	ENSP00000326018:R897Q	R	-	2	0	PRX	45593409	0.000000	0.05858	0.928000	0.36995	0.979000	0.70002	0.904000	0.28491	2.496000	0.84212	0.650000	0.86243	CGA		TCGA-FB-AAQ6-01A-11D-A40W-08	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	0	0	0	99	296	0	108	0	6.392162e-02	0	2	0	108	2								1	1.000000	98	293	0	107	2								-5.000543	1	1	121410	6	39	1	0	0	0	2.047941	0	0.630000	1.870000	0.625279	0.780000	6.500000e-01	0.920000	0.790000	0.788343	0.780000	0	0.710000	0.850000
PGLYRP1	8993	broad.mit.edu	37	19	46522861	46522861	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:46522861C>G	ENST00000008938.4	-	2	375	c.332G>C	c.(331-333)tGg>tCg	p.W111S	CCDC61_ENST00000601763.1_Intron|MIR769_ENST00000390225.1_RNA	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1			10		all_neural(266;0.113)|Ovarian(192;0.127)			CGTGAAGTTCCAGCCACGGCC	0.582000																								0							SO:0001583	missense			ENST00000008938.4	0	1	hg19	CCDS12680.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139492	0.37728	.	.	ENSG00000008438	ENST00000008938	T	0.49720	0.77	5.01	5.01	0.66863	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.56097	D	0.000027	T	0.74921	0.3780	M	0.92268	3.29	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81551	-0.0881	10	0.87932	D	0	-27.3543	13.8728	0.63629	0.0:1.0:0.0:0.0	.	111	O75594	PGRP1_HUMAN	S	111	ENSP00000008938:W111S	ENSP00000008938:W111S	W	-	2	0	PGLYRP1	51214701	1.000000	0.71417	0.996000	0.52242	0.011000	0.07611	3.970000	0.56824	2.335000	0.79485	0.650000	0.86243	TGG		TCGA-FB-AAQ6-01A-11D-A40W-08	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	0	0	0	5	186	0	69		0	0	0	0	69	2								1	0.933934	5	181	0	68	2								-6.971575	1	1	0	0		1	0	0	0	2.047941	0	0.630000	1.870000	0.625279	0.080000	2.000000e-02	0.180000	0.080000	0.097147	0.080000	0	0.050000	0.130000
UHRF1	29128	broad.mit.edu	37	19	4910731	4910731	+	RNA	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:4910731C>A	ENST00000592666.1	+	0	566							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1			16					GTGTCTGGTCCTGGCCAGGGT	0.502000																								0											ENST00000592666.1	0	1	hg19																																																																																					TCGA-FB-AAQ6-01A-11D-A40W-08	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	0	0	0	17	27	0	10		0	0	0	0	10	2								1	0.999987	17	24	0	10	2								-20.000000	1	1	0	0		1	0	0	0	2.047941	0	0.630000	1.870000	0.625279	0.990000	7.800000e-01	1.000000	1.000000	0.981272	0.990000	1	0.980000	1.000000
XAB2	56949	broad.mit.edu	37	19	7686089	7686089	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:7686089C>T	ENST00000358368.4	-	13	1749	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	XAB2_ENST00000534844.1_Missense_Mutation_p.R568H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2			26					CTCCAGCTTGCGGCCCCCATA	0.627000								Direct reversal of damage;Nucleotide excision repair (NER)																0							SO:0001583	missense			ENST00000358368.4	0	1	hg19	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190993	0.58017	4.54E-4	0.0	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.03553	3.89;3.89	4.32	3.27	0.37495	Tetratricopeptide-like helical (1);	0.079176	0.49305	D	0.000157	T	0.03136	0.0092	L	0.29908	0.895	0.35535	D	0.802571	P	0.43701	0.815	B	0.40165	0.321	T	0.51655	-0.8678	10	0.51188	T	0.08	-22.9882	6.2129	0.20640	0.0:0.7055:0.0:0.2945	.	571	Q9HCS7	SYF1_HUMAN	H	571;568	ENSP00000351137:R571H;ENSP00000438225:R568H	ENSP00000351137:R571H	R	-	2	0	XAB2	7592089	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.857000	0.39399	1.021000	0.39600	0.467000	0.42956	CGC		TCGA-FB-AAQ6-01A-11D-A40W-08	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	0	0	0	6	181	0	48	0	6.000135e-01	0	58	0	48	2								1	0.963339	6	177	0	48	2								-3.319989	1	1	121374	5	34	1	0	0	0	2.047941	0	0.630000	1.870000	0.625279	0.100000	4.000000e-02	0.210000	0.100000	0.115729	0.100000	0	0.060000	0.160000
MUC16	94025	broad.mit.edu	37	19	9064926	9064926	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:9064926G>A	ENST00000397910.4	-	3	22723	c.22520C>T	c.(22519-22521)gCa>gTa	p.A7507V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GGTACCCATTGCCGATGTGGC	0.463000																								0							SO:0001583	missense			ENST00000397910.4	0	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	7.534	0.659360	0.14645	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	2.91	0.462	0.16695	.	.	.	.	.	T	0.09730	0.0239	N	0.08118	0	.	.	.	B	0.22146	0.065	B	0.19148	0.024	T	0.18241	-1.0343	8	0.87932	D	0	.	5.4895	0.16769	0.0:0.2195:0.5554:0.2251	.	7507	B5ME49	.	V	7507	ENSP00000381008:A7507V	ENSP00000381008:A7507V	A	-	2	0	MUC16	8925926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.221000	0.17680	0.201000	0.20466	0.508000	0.49915	GCA		TCGA-FB-AAQ6-01A-11D-A40W-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	107	262	0	117		0	0	0	0	117	2								1	1.000000	105	255	0	116	2								-20.000000	1	1	0	0		1	0	0	0	2.047941	0	0.630000	1.870000	0.625279	0.900000	7.600000e-01	1.000000	1.000000	0.906613	0.900000	1	0.830000	0.980000
ZNF317	57693	broad.mit.edu	37	19	9271674	9271674	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr19:9271674C>T	ENST00000247956.6	+	7	1658	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	ZNF317_ENST00000360385.3_Silent_p.C419C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317			27					GCGATCTCTGCGGGAAAGCTT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000247956.6	0	1	hg19	CCDS12210.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	0	0	0	41	124	0	62	1	7.478127e-01	3	7	0	62	2								1	1.000000	41	122	0	62	2								-20.000000	1	1	121412	5	38	1	0	0	0	2.047941	0	0.630000	1.870000	0.625279	0.770000	5.800000e-01	0.980000	0.780000	0.784413	0.770000	0	0.670000	0.890000
SLC6A17	388662	broad.mit.edu	37	1	110738217	110738217	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:110738217G>A	ENST00000331565.4	+	10	1987	c.1502G>A	c.(1501-1503)tGt>tAt	p.C501Y		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17			37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)			GTGGGCTGCTGTGTCTTTGCA	0.637000																								0							SO:0001583	missense			ENST00000331565.4	0	1	hg19	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983175	0.93044	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.76186	-1.0	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91808	0.7408	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94494	0.7704	10	0.87932	D	0	.	19.6998	0.96048	0.0:0.0:1.0:0.0	.	501	Q9H1V8	S6A17_HUMAN	Y	501	ENSP00000330199:C501Y	ENSP00000330199:C501Y	C	+	2	0	SLC6A17	110539740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.734000	0.98822	2.657000	0.90304	0.655000	0.94253	TGT		TCGA-FB-AAQ6-01A-11D-A40W-08	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	0	0	0	110	103	0	83	0	0	0	1	0	83	2								1	1.000000	108	101	0	82	2								-20.000000	1	1	0	0		1	0	1	1	1.628727	1	0.630000	1.870000	0.459854	0.970000	8.900000e-01	1.000000	0.990000	0.972366	0.970000	1	0.940000	1.000000
SNX27	81609	broad.mit.edu	37	1	151634647	151634647	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:151634647C>T	ENST00000458013.2	+	5	927	c.807C>T	c.(805-807)taC>taT	p.Y269Y	SNX27_ENST00000368843.3_Silent_p.Y269Y|SNX27_ENST00000368838.1_Silent_p.Y176Y			Q96L92	SNX27_HUMAN	sorting nexin family member 27			5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)		CCCAGAACTACAATGGTGTGT	0.418000													Colon(46;291 966 40145 41237 41888)											0							SO:0001819	synonymous_variant			ENST00000458013.2	0	1	hg19																																																																																					TCGA-FB-AAQ6-01A-11D-A40W-08	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	0	0	0	48	175	0	41	0	5.444518e-01	0	7	0	41	2								1	1.000000	46	173	0	41	2								-20.000000	1	1	0	0		1	2	4	6	2.868400	1	0.630000	1.870000	0.731495	0.980000	7.300000e-01	1.000000	1.000000	0.938581	0.980000	1	0.840000	1.000000
GBA	2629	broad.mit.edu	37	1	155205555	155205555	+	Missense_Mutation	SNP	G	G	T	rs80356768		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:155205555G>T	ENST00000327247.5	-	10	1537	c.1305C>A	c.(1303-1305)aaC>aaA	p.N435K	GBA_ENST00000536770.1_Missense_Mutation_p.N322K|GBA_ENST00000427500.3_Missense_Mutation_p.N386K|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Missense_Mutation_p.N348K|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Missense_Mutation_p.N435K	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid			26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)	Velaglucerase alfa(DB06720)	TGTCGACAAAGTTACGCACCC	0.547000									Gaucher disease type I															0							SO:0001583	missense	Familial Cancer Database	glucocerebrosidase insufficiency	ENST00000327247.5	0	1	hg19	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.569455	0.45798	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75;-5.75	4.95	3.07	0.35406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.99381	0.9782	M	0.93939	3.475	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.99;0.994	D	0.99748	1.1017	10	0.87932	D	0	.	9.7187	0.40289	0.247:0.0:0.753:0.0	.	386;322;435	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	K	386;348;435;435;322;392;420	ENSP00000402577:N386K;ENSP00000397986:N348K;ENSP00000357357:N435K;ENSP00000314508:N435K;ENSP00000445560:N322K	ENSP00000314508:N435K	N	-	3	2	GBA	153472179	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	3.486000	0.53215	0.379000	0.24794	-0.797000	0.03246	AAC		TCGA-FB-AAQ6-01A-11D-A40W-08	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	0	0	0	33	147	0	44	1	1	42	113	0	44	2								1	1.000000	33	142	0	44	2								-20.000000	1	0	0	0		1	2	4	6	2.868400	1	0.630000	1.870000	0.731495	0.840000	5.800000e-01	1.000000	1.000000	0.848835	0.840000	0	0.700000	1.000000
CCDC19	0	broad.mit.edu	37	1	159856380	159856380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:159856380G>A	ENST00000368099.4	-	6	752	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	CCDC19_ENST00000426543.2_Nonsense_Mutation_p.Q145*|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2						26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)		TCCATCATCTGATCCAACCGC	0.483000																								0							SO:0001587	stop_gained			ENST00000368099.4	0	1	hg19	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	38	6.842086	0.97877	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	.	.	.	5.51	4.57	0.56435	.	0.368018	0.31519	N	0.007516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3392	13.8298	0.63373	0.0:0.1546:0.8454:0.0	.	.	.	.	X	230;145	.	.	Q	-	1	0	CCDC19	158123004	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.719000	0.38011	1.273000	0.44346	0.563000	0.77884	CAG		TCGA-FB-AAQ6-01A-11D-A40W-08	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1	0	0	0	106	1200	0	297	0	8.069359e-02	0	6	0	297	2								1	1.000000	105	1188	0	296	2								-19.990180	1	1	0	0		1	2	4	6	2.868400	1	0.630000	1.870000	0.731495	0.360000	2.800000e-01	1.000000	0.350000	0.487559	0.360000	0	0.320000	1.000000
C1orf110	339512	broad.mit.edu	37	1	162824686	162824686	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:162824686G>A	ENST00000367910.1	-	4	898	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110			12					ACCCTGTGCCGGAGATAATGG	0.502000																								0							SO:0001583	missense			ENST00000367910.1	0	1	hg19	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474319	0.43942	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	3.5	0.40072	.	0.000000	0.47455	D	0.000237	T	0.16599	0.0399	L	0.36672	1.1	0.34538	D	0.709987	P	0.46395	0.877	B	0.40901	0.343	T	0.04693	-1.0933	8	0.49607	T	0.09	-7.6072	8.1269	0.31003	0.1093:0.0:0.8907:0.0	.	260	Q86UF4	CA110_HUMAN	W	260	.	ENSP00000356886:R260W	R	-	1	2	C1orf110	161091310	1.000000	0.71417	0.991000	0.47740	0.269000	0.26545	1.845000	0.39279	1.051000	0.40369	0.655000	0.94253	CGG		TCGA-FB-AAQ6-01A-11D-A40W-08	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	0	0	0	5	370	0	100		0	0	0	0	100	2								1	0.936617	5	367	0	99	2								-2.907436	1	1	120816	6	41	1	2	4	6	2.868400	1	0.630000	1.870000	0.731495	0.070000	1.000000e-02	1.000000	0.060000	0.257198	0.070000	0	0.030000	1.000000
F5	2153	broad.mit.edu	37	1	169510549	169510549	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:169510549G>A	ENST00000367797.3	-	13	3980	c.3779C>T	c.(3778-3780)cCa>cTa	p.P1260L	F5_ENST00000367796.3_Missense_Mutation_p.P1265L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)			128	all_hematologic(923;0.208)			ART-123(DB05777)|Drotrecogin alfa(DB00055)	ACTGAGTTCTGGAGAGAGGTT	0.512000																								0							SO:0001583	missense			ENST00000367797.3	0	1	hg19	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535336	0.45176	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.38722	1.12;1.12	4.76	1.72	0.24424	.	.	.	.	.	T	0.21590	0.0520	M	0.70595	2.14	0.22366	N	0.999165	B	0.14805	0.011	B	0.14023	0.01	T	0.06516	-1.0822	8	0.59425	D	0.04	-2.6912	7.0922	0.25289	0.0846:0.0:0.6134:0.302	.	1260	P12259	FA5_HUMAN	L	1260;1265	ENSP00000356771:P1260L;ENSP00000356770:P1265L	ENSP00000356770:P1265L	P	-	2	0	F5	167777173	0.003000	0.15002	0.001000	0.08648	0.010000	0.07245	1.214000	0.32419	0.143000	0.18926	0.650000	0.86243	CCA		TCGA-FB-AAQ6-01A-11D-A40W-08	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	0	0	420	1142	0	390	1	9.985813e-01	8	21	0	390	2								1	1.000000	411	1107	0	384	2								-20.000000	1	1	0	0		1	2	4	6	2.868400	1	0.630000	1.870000	0.731495	0.990000	9.900000e-01	1.000000	1.000000	0.999999	0.990000	1	0.990000	1.000000
HMCN1	83872	broad.mit.edu	37	1	186017951	186017951	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:186017951A>T	ENST00000271588.4	+	42	6786	c.6557A>T	c.(6556-6558)aAc>aTc	p.N2186I	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2186I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					ACTGAAAAAAACTACAATGTC	0.358000																								0							SO:0001583	missense			ENST00000271588.4	0	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600104	0.87055	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.041576	0.85682	D	0.000000	T	0.71634	0.3363	N	0.25890	0.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.70795	-0.4775	10	0.33141	T	0.24	.	15.4776	0.75497	1.0:0.0:0.0:0.0	.	2186	Q96RW7	HMCN1_HUMAN	I	2186	ENSP00000271588:N2186I;ENSP00000356462:N2186I	ENSP00000271588:N2186I	N	+	2	0	HMCN1	184284574	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	8.910000	0.92685	2.106000	0.64143	0.455000	0.32223	AAC		TCGA-FB-AAQ6-01A-11D-A40W-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	0	34	407	1	140		0	0	0	1	140	2								1	0.999773	34	402	1	140	12								-20.000000	1	1	0	0		1	2	4	6	2.868400	1	0.630000	1.870000	0.731495	0.350000	2.300000e-01	1.000000	0.350000	0.477647	0.350000	0	0.290000	1.000000
ASPM	259266	broad.mit.edu	37	1	197072532	197072532	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:197072532G>A	ENST00000367409.4	-	18	6105	c.5849C>T	c.(5848-5850)gCg>gTg	p.A1950V	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					CACCAGTACCGCATGACGGAG	0.393000																								0							SO:0001583	missense			ENST00000367409.4	0	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465838	0.43839	2.27E-4	1.16E-4	ENSG00000066279	ENST00000367409	T	0.72942	-0.7	5.62	5.62	0.85841	.	0.240301	0.35013	N	0.003508	T	0.73682	0.3618	M	0.88031	2.925	0.33688	D	0.61294	P	0.46512	0.879	B	0.40256	0.324	D	0.84790	0.0778	10	0.52906	T	0.07	.	11.2614	0.49085	0.0:0.2325:0.6416:0.1259	.	1950	Q8IZT6	ASPM_HUMAN	V	1950	ENSP00000356379:A1950V	ENSP00000356379:A1950V	A	-	2	0	ASPM	195339155	0.377000	0.25106	0.044000	0.18714	0.002000	0.02628	3.229000	0.51278	2.648000	0.89879	0.650000	0.86243	GCG		TCGA-FB-AAQ6-01A-11D-A40W-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	0	10	1205	0	318	0	8.890434e-05	0	2	0	318	2								1	0.996752	10	1196	0	317	2								-1.810236	0	1	121412	3	41	1	2	4	6	2.892390	1	0.630000	1.870000	0.733928	0.030000	0	1.000000	0.030000	0.234822	0.030000	0	0.010000	1.000000
KLHL12	59349	broad.mit.edu	37	1	202864825	202864825	+	Silent	SNP	A	A	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:202864825A>T	ENST00000367261.3	-	8	1178	c.960T>A	c.(958-960)cgT>cgA	p.R320R	KLHL12_ENST00000367259.1_Silent_p.R53R|KLHL12_ENST00000435533.3_Silent_p.R358R	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12			14			BRCA - Breast invasive adenocarcinoma(75;0.166)		AGGCCACATAACGTCTCTTAC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000367261.3	0	1	hg19	CCDS1429.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	0	0	0	5	225	0	53	0	1.418647e-01	0	25	0	53	2								1	0.936051	5	222	0	53	2								-6.803067	1	1	0	0		1	2	4	6	2.892390	1	0.630000	1.870000	0.733928	0.110000	3.000000e-02	1.000000	0.100000	0.296530	0.110000	0	0.060000	1.000000
NFASC	23114	broad.mit.edu	37	1	204923462	204923462	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:204923462G>A	ENST00000401399.1	+	5	561	c.362G>A	c.(361-363)cGc>cAc	p.R121H	NFASC_ENST00000338586.6_Missense_Mutation_p.R121H|NFASC_ENST00000338515.6_Missense_Mutation_p.R121H|NFASC_ENST00000513543.1_Missense_Mutation_p.R115H|NFASC_ENST00000367172.4_Missense_Mutation_p.R121H|NFASC_ENST00000403080.1_Missense_Mutation_p.R121H|NFASC_ENST00000367170.4_Missense_Mutation_p.R121H|NFASC_ENST00000367171.4_Missense_Mutation_p.R121H|NFASC_ENST00000404076.1_Missense_Mutation_p.R115H|NFASC_ENST00000367169.4_Missense_Mutation_p.R121H|NFASC_ENST00000360049.4_Missense_Mutation_p.R115H|NFASC_ENST00000404907.1_Missense_Mutation_p.R115H|NFASC_ENST00000539706.1_Missense_Mutation_p.R115H|NFASC_ENST00000339876.6_Missense_Mutation_p.R121H			O94856	NFASC_HUMAN	neurofascin			81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		TGCTTCGCCCGCAACAAATTT	0.607000																								0							SO:0001583	missense			ENST00000401399.1	0	1	hg19	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.351348|3.351348	0.61183|0.61183	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.53938	.|D	.|0.000050	T|T	0.74794|0.74794	0.3763|0.3763	M|M	0.72624|0.72624	2.21|2.21	0.40172|0.40172	D|D	0.977199|0.977199	.|P;P;B;P;P;D	.|0.54601	.|0.711;0.64;0.206;0.838;0.752;0.967	.|B;B;B;B;B;P	.|0.50270	.|0.1;0.083;0.162;0.144;0.083;0.636	T|T	0.77197|0.77197	-0.2676|-0.2676	5|10	.|0.46703	.|T	.|0.11	.|.	18.6966|18.6966	0.91603|0.91603	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|115;115;217;121;115;121	.|O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.	T|H	91|121;121;121;121;121;121;115;115;115;121;121;121;115;121;121;115;115;91	.|ENSP00000356140:R121H;ENSP00000356139:R121H;ENSP00000356138:R121H;ENSP00000342128:R121H;ENSP00000344786:R121H;ENSP00000343509:R121H;ENSP00000438614:R115H;ENSP00000353154:R115H;ENSP00000356137:R121H;ENSP00000412161:R121H;ENSP00000384875:R121H;ENSP00000385676:R115H;ENSP00000385637:R121H;ENSP00000427586:R121H;ENSP00000384061:R115H;ENSP00000425908:R115H;ENSP00000415031:R91H	.|ENSP00000295776:R115H	A|R	+|+	1|2	0|0	NFASC|NFASC	203190085|203190085	0.782000|0.782000	0.28689|0.28689	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.659000|2.659000	0.46741|0.46741	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	GCA|CGC		TCGA-FB-AAQ6-01A-11D-A40W-08	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	0	0	0	5	164	0	40		0	0	0	0	40	2								1	0.934493	5	160	0	40	2								-6.762718	1	0	121412	2	30	1	2	4	6	2.892390	1	0.630000	1.870000	0.733928	0.160000	5.000000e-02	1.000000	0.130000	0.328762	0.160000	0	0.090000	1.000000
PGBD5	79605	broad.mit.edu	37	1	230492737	230492737	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:230492737C>T	ENST00000525115.1	-	2	478	c.455G>A	c.(454-456)cGc>cAc	p.R152H	PGBD5_ENST00000391860.1_Missense_Mutation_p.R106H|PGBD5_ENST00000321327.2_Missense_Mutation_p.R251H			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5			33	Breast(184;0.0397)	Prostate(94;0.167)			CTGGCTGGAGCGGAAGGCCAC	0.617000																								0							SO:0001583	missense			ENST00000525115.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	35	5.549386	0.96501	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.18016	2.24;2.24;2.24	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01512	-1.1336	10	0.48119	T	0.1	-48.7684	20.5568	0.99304	0.0:1.0:0.0:0.0	.	152	Q8N414	PGBD5_HUMAN	H	106;251;152	ENSP00000375733:R106H;ENSP00000322530:R251H;ENSP00000431404:R152H	ENSP00000322530:R251H	R	-	2	0	PGBD5	228559360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	2.861000	0.98227	0.655000	0.94253	CGC		TCGA-FB-AAQ6-01A-11D-A40W-08	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	0	0	0	66	284	1	51	0	9.520442e-02	0	3	1	51	2								1	1.000000	64	278	1	51	21								-3.130525	1	1	0	0		1	2	4	6	2.909323	1	0.630000	1.870000	0.736317	0.870000	6.700000e-01	1.000000	1.000000	0.877165	0.870000	1	0.760000	1.000000
RCAN3	11123	broad.mit.edu	37	1	24859625	24859625	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr1:24859625C>G	ENST00000374395.4	+	4	735	c.422C>G	c.(421-423)cCt>cGt	p.P141R	RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.P131R|RCAN3_ENST00000538532.1_Missense_Mutation_p.P83R	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3			7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)			CCGCCCCAGCCTGTCAAGCAG	0.567000																								0							SO:0001583	missense			ENST00000374395.4	0	1	hg19	CCDS254.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242107	0.79912	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000538532	T;T;T	0.50548	0.76;0.75;0.74	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.80487	-0.1361	10	0.72032	D	0.01	-28.9874	19.094	0.93242	0.0:1.0:0.0:0.0	.	83;131;141	A4GU14;Q9UKA8-2;Q9UKA8	.;.;RCAN3_HUMAN	R	141;131;83	ENSP00000363516:P141R;ENSP00000414447:P131R;ENSP00000445401:P83R	ENSP00000363516:P141R	P	+	2	0	RCAN3	24732212	1.000000	0.71417	0.967000	0.41034	0.498000	0.33706	7.278000	0.78587	2.822000	0.97130	0.558000	0.71614	CCT		TCGA-FB-AAQ6-01A-11D-A40W-08	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2	0	0	0	92	68	0	68	1	9.854147e-01	7	1	0	68	2								1	1.000000	89	66	0	68	2								-20.000000	1	1	0	0		1	0	1	1	1.716275	1	0.630000	1.870000	0.464777	0.990000	9.200000e-01	1.000000	1.000000	0.990003	0.990000	1	0.970000	1.000000
BTBD3	22903	broad.mit.edu	37	20	11899817	11899817	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:11899817G>A	ENST00000405977.1	+	3	1035	c.410G>A	c.(409-411)gGa>gAa	p.G137E	BTBD3_ENST00000399006.2_Missense_Mutation_p.G76E|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_Missense_Mutation_p.G137E|BTBD3_ENST00000254977.3_Missense_Mutation_p.G76E	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3			34					CGGTTGCCAGGACACAAAGTA	0.473000																								0							SO:0001583	missense			ENST00000405977.1	0	1	hg19	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482599	0.63962	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000422390;ENST00000378226;ENST00000455911;ENST00000430557	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.93	5.93	0.95920	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.72894	2.215	0.80722	D	1	P	0.41188	0.741	P	0.48141	0.568	T	0.09684	-1.0663	10	0.87932	D	0	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	137	Q9Y2F9	BTBD3_HUMAN	E	76;76;137;76;137;26;26	ENSP00000254977:G76E;ENSP00000381971:G76E;ENSP00000384545:G137E;ENSP00000397809:G76E;ENSP00000367471:G137E;ENSP00000408817:G26E;ENSP00000404582:G26E	ENSP00000254977:G76E	G	+	2	0	BTBD3	11847817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.904000	0.87408	2.826000	0.97356	0.655000	0.94253	GGA		TCGA-FB-AAQ6-01A-11D-A40W-08	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3	0	0	0	37	104	0	54	1	9.279847e-01	5	10	0	54	2								1	1.000000	35	103	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.284427	1	0.630000	1.870000	0.659989	0.940000	6.800000e-01	1.000000	1.000000	0.915215	0.940000	1	0.800000	1.000000
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12			36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)		CCTGCACTGGGCATTCCCGCA	0.557000																								0							SO:0001583	missense			ENST00000374114.3	0	1	hg19	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		TCGA-FB-AAQ6-01A-11D-A40W-08	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	0	0	6	511	1	196	0	5.487445e-02	0	27	1	196	2								0	0.156180	6	504	1	193	11								-2.180157	0	1	0	0		1	1	2	3	2.284427	1	0.630000	1.870000	0.659989	0.040000	0	1.000000	0.050000	0.230889	0.040000	0	0.020000	1.000000
EDN3	1908	broad.mit.edu	37	20	57899466	57899466	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr20:57899466C>T	ENST00000337938.2	+	5	1055	c.669C>T	c.(667-669)ctC>ctT	p.L223L	EDN3_ENST00000371028.2_Silent_p.L223L|EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000395654.3_Silent_p.L209L	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3			19	all_lung(29;0.0115)				GACTCGCCCTCGCTCCATCTA	0.592000																								0							SO:0001819	synonymous_variant			ENST00000337938.2	0	1	hg19	CCDS13477.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	0	0	0	8	697	0	153	0	2.843676e-02	0	20	0	153	2								1	0.988777	8	687	0	151	2								-2.429460	0	1	121412	5	40	1	1	2	3	2.304725	1	0.630000	1.870000	0.662916	0.040000	0	1.000000	0.050000	0.241188	0.040000	0	0.020000	1.000000
KRTAP11-1	337880	broad.mit.edu	37	21	32253686	32253686	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:32253686A>G	ENST00000332378.4	-	1	188	c.158T>C	c.(157-159)cTg>cCg	p.L53P		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1			18					ACAGTGGTCCAGGAGCCAAGA	0.567000																								0							SO:0001583	missense			ENST00000332378.4	0	1	hg19	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095059	0.56075	.	.	ENSG00000182591	ENST00000332378	T	0.03689	3.84	5.4	5.4	0.78164	.	0.167269	0.38272	N	0.001753	T	0.15305	0.0369	M	0.84948	2.725	0.58432	D	0.999998	D	0.61080	0.989	D	0.63113	0.911	T	0.00817	-1.1554	10	0.35671	T	0.21	-7.1524	8.316	0.32100	0.9117:0.0:0.0883:0.0	.	53	Q8IUC1	KR111_HUMAN	P	53	ENSP00000330720:L53P	ENSP00000330720:L53P	L	-	2	0	KRTAP11-1	31175557	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.106000	0.57804	2.197000	0.70478	0.529000	0.55759	CTG		TCGA-FB-AAQ6-01A-11D-A40W-08	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1	0	0	0	48	182	0	97		0	0	0	0	97	2								1	1.000000	46	181	0	97	2								-20.000000	1	1	0	0		1	0	0	0	2.079131	0	0.630000	1.870000	0.630000	0.660000	5.000000e-01	0.830000	0.660000	0.668782	0.660000	0	0.570000	0.750000
CRYZL1	9946	broad.mit.edu	37	21	34969588	34969588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:34969588G>A	ENST00000381554.3	-	10	881	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	CRYZL1_ENST00000480893.1_5'UTR|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.Q266*|CRYZL1_ENST00000361534.2_Nonsense_Mutation_p.Q290*|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.Q251*	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1			3					GATAGTACCTGAAGGTTTTCT	0.373000																								0							SO:0001587	stop_gained			ENST00000381554.3	0	1	hg19	CCDS13633.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.674981|4.674981	0.88445|0.88445	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000361534|ENST00000441940;ENST00000440526	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74854	.|0.3771	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73461	.|-0.3975	.|4	0.42905|.	T|.	0.14|.	-16.5157|-16.5157	18.807|18.807	0.92041|0.92041	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	266;251;266;290|41;209	.|.	ENSP00000290244:Q251X|.	Q|S	-|-	1|2	0|0	CRYZL1|CRYZL1	33891458|33891458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.661000|7.661000	0.83786|0.83786	2.591000|2.591000	0.87537|0.87537	0.650000|0.650000	0.86243|0.86243	CAG|TCA		TCGA-FB-AAQ6-01A-11D-A40W-08	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	0	0	0	120	254	0	185	0	8.784994e-01	0	10	0	185	2								1	1.000000	120	249	0	185	2								-11.135130	1	1	0	0		1	0	0	0	2.079131	0	0.630000	1.870000	0.630000	0.990000	8.600000e-01	1.000000	1.000000	0.978486	0.990000	1	0.930000	1.000000
DSCAM	1826	broad.mit.edu	37	21	41741051	41741051	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:41741051G>T	ENST00000400454.1	-	4	1107	c.630C>A	c.(628-630)agC>agA	p.S210R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			TGGCGCTGTTGCTCTGCCTCG	0.438000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001583	missense			ENST00000400454.1	0	1	hg19	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137474	0.77775	.	.	ENSG00000171587	ENST00000400454	T	0.19394	2.15	6.07	-3.03	0.05429	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.83603	2.65	0.41002	D	0.98493	D	0.76494	0.999	D	0.83275	0.996	T	0.39542	-0.9609	10	0.66056	D	0.02	.	12.8167	0.57669	0.6272:0.0:0.3728:0.0	.	210	O60469	DSCAM_HUMAN	R	210	ENSP00000383303:S210R	ENSP00000383303:S210R	S	-	3	2	DSCAM	40662921	1.000000	0.71417	0.853000	0.33588	0.951000	0.60555	0.640000	0.24705	-1.031000	0.03308	0.655000	0.94253	AGC		TCGA-FB-AAQ6-01A-11D-A40W-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	0	0	0	9	326	0	110		0	0	0	0	110	2								1	0.994302	9	325	0	110	2								-9.104522	1	1	0	0		1	0	0	0	2.079131	0	0.630000	1.870000	0.630000	0.080000	3.000000e-02	0.150000	0.080000	0.094017	0.080000	0	0.050000	0.120000
TRPM2	7226	broad.mit.edu	37	21	45833885	45833885	+	Missense_Mutation	SNP	C	C	T	rs138586774		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr21:45833885C>T	ENST00000397928.1	+	20	3519	c.3074C>T	c.(3073-3075)aCg>aTg	p.T1025M	TRPM2_ENST00000397932.2_Missense_Mutation_p.T1025M|AP001065.2_ENST00000456880.1_RNA|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1025M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1005M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2			76					GAGTGGCTGACGGTCCTCCTA	0.637000																								0							SO:0001583	missense			ENST00000397928.1	0	1	hg19	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347791	0.82022	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	M	0.88906	2.99	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99616	1.0982	10	0.87932	D	0	-22.3961	18.1214	0.89572	0.0:1.0:0.0:0.0	.	1025;811;1025	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	1025;1025;1005;1025	ENSP00000300482:T1025M;ENSP00000381023:T1025M;ENSP00000300481:T1005M;ENSP00000381026:T1025M	ENSP00000300481:T1005M	T	+	2	0	TRPM2	44658313	1.000000	0.71417	0.902000	0.35471	0.965000	0.64279	5.679000	0.68160	2.352000	0.79861	0.591000	0.81541	ACG		TCGA-FB-AAQ6-01A-11D-A40W-08	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	0	0	0	38	1262	0	387	0	0	0	1	0	387	2								1	1.000000	37	1240	0	386	2								-2.677007	1	1	121412	38	52	1	0	0	0	2.079131	0	0.630000	1.870000	0.630000	0.080000	5.000000e-02	0.130000	0.100000	0.095017	0.080000	0	0.070000	0.110000
CHEK2	11200	broad.mit.edu	37	22	29130542	29130542	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:29130542G>C	ENST00000405598.1	-	3	359	c.168C>G	c.(166-168)agC>agG	p.S56R	CHEK2_ENST00000403642.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382565.1_Missense_Mutation_p.S56R|CHEK2_ENST00000402731.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382580.2_Missense_Mutation_p.S56R|CHEK2_ENST00000348295.3_Missense_Mutation_p.S56R|CHEK2_ENST00000382578.1_Missense_Mutation_p.S56R|CHEK2_ENST00000382566.1_Missense_Mutation_p.S56R|CHEK2_ENST00000328354.6_Missense_Mutation_p.S56R|CHEK2_ENST00000404276.1_Missense_Mutation_p.S56R|CHEK2_ENST00000544772.1_5'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2			50					GTGTCCCAGAGCTGGAGTGAG	0.562000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0							SO:0001583	missense			ENST00000405598.1	0	1	hg19	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791600	0.70452	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	T;T;T;D;T;T;T;T;T;T;T;T;D	0.95103	0.58;-0.25;-0.67;-3.61;-0.38;-0.38;-0.38;2.13;-0.25;0.58;0.03;2.13;-2.79	5.42	2.08	0.27032	.	0.125544	0.85682	D	0.000000	D	0.95446	0.8521	L	0.56769	1.78	0.41295	D	0.987004	D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.999;0.998;0.999	D;D;D;D;D;D	0.85130	0.997;0.996;0.991;0.996;0.991;0.996	D	0.93676	0.6994	10	0.41790	T	0.15	-2.6501	9.8378	0.40980	0.2972:0.0:0.7028:0.0	.	56;56;56;56;56;56	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	R	56;56;56;56;56;56;56;56;56;56;56;56;56;66	ENSP00000329012:S56R;ENSP00000372021:S56R;ENSP00000372006:S56R;ENSP00000372007:S56R;ENSP00000329178:S56R;ENSP00000385747:S56R;ENSP00000386087:S56R;ENSP00000372023:S56R;ENSP00000384919:S56R;ENSP00000384835:S56R;ENSP00000397478:S56R;ENSP00000408065:S56R;ENSP00000381099:S66R	ENSP00000329178:S56R	S	-	3	2	CHEK2	27460542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.539000	0.23175	0.749000	0.32854	0.655000	0.94253	AGC		TCGA-FB-AAQ6-01A-11D-A40W-08	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	0	0	0	110	302	0	108	1	5.958219e-01	2	5	0	108	2								1	1.000000	107	289	0	108	2								-20.000000	1	1	0	0		1	1	2	3	2.151451	0	0.630000	1.870000	0.635737	0.860000	7.200000e-01	1.000000	0.860000	0.867749	0.860000	1	0.780000	0.940000
NCF4	4689	broad.mit.edu	37	22	37273798	37273798	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:37273798G>A	ENST00000248899.6	+	10	1137	c.953G>A	c.(952-954)cGc>cAc	p.R318H	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa			16				Dextromethorphan(DB00514)	TCCCAGAAGCGCCTCTTCCCC	0.617000																								0							SO:0001583	missense			ENST00000248899.6	0	1	hg19	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067255	0.36470	2.27E-4	0.0	ENSG00000100365	ENST00000248899	T	0.23552	1.9	5.31	0.851	0.18989	Phox/Bem1p (2);	.	.	.	.	T	0.13157	0.0319	N	0.16233	0.39	0.58432	D	0.999999	B	0.11235	0.004	B	0.08055	0.003	T	0.10245	-1.0638	9	0.30854	T	0.27	.	6.9148	0.24354	0.4921:0.0:0.5079:0.0	.	318	Q15080	NCF4_HUMAN	H	318	ENSP00000248899:R318H	ENSP00000248899:R318H	R	+	2	0	NCF4	35603744	0.735000	0.28153	0.982000	0.44146	0.789000	0.44602	0.840000	0.27600	0.240000	0.21263	0.557000	0.71058	CGC		TCGA-FB-AAQ6-01A-11D-A40W-08	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	0	0	0	42	88	0	25	1	9.999533e-01	8	29	0	25	2								1	1.000000	41	85	0	25	2								-20.000000	1	1	121412	3	36	1	1	2	3	2.151451	0	0.630000	1.870000	0.635737	0.990000	7.900000e-01	1.000000	1.000000	0.969158	0.990000	1	0.910000	1.000000
EP300	2033	broad.mit.edu	37	22	41573306	41573306	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr22:41573306C>G	ENST00000263253.7	+	31	6810	c.5591C>G	c.(5590-5592)aCc>aGc	p.T1864S	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300			171					CAACAGCCAACCACCCCGCAG	0.642000			T,  N, F, Mis, O	MLL, RUNXBP2	colorectal, breast, pancreatic, AML, ALL, DLBCL				Rubinstein-Taybi syndrome						Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		L, E	0							SO:0001583	missense	Familial Cancer Database	Broad Thumb-Hallux syndrome	ENST00000263253.7	0	1	hg19	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	4.675	0.125490	0.08931	.	.	ENSG00000100393	ENST00000263253	D	0.82081	-1.57	5.47	4.42	0.53409	.	0.509983	0.15738	N	0.247047	T	0.64283	0.2584	N	0.04508	-0.205	0.27890	N	0.939351	B	0.02656	0.0	B	0.04013	0.001	T	0.37220	-0.9715	10	0.05721	T	0.95	-0.4911	16.0157	0.80439	0.0:0.8652:0.1348:0.0	.	1864	Q09472	EP300_HUMAN	S	1864	ENSP00000263253:T1864S	ENSP00000263253:T1864S	T	+	2	0	EP300	39903252	0.042000	0.20092	0.813000	0.32504	0.206000	0.24218	3.270000	0.51600	1.251000	0.43983	0.561000	0.74099	ACC		TCGA-FB-AAQ6-01A-11D-A40W-08	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	0	0	0	77	236	0	86	1	9.985262e-01	9	24	0	86	2								1	1.000000	75	217	0	80	2								-20.000000	1	1	0	0		1	1	2	3	2.173353	0	0.630000	1.870000	0.637982	0.800000	6.400000e-01	1.000000	0.790000	0.812796	0.800000	0	0.720000	0.900000
LPIN1	23175	broad.mit.edu	37	2	11935562	11935562	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:11935562G>A	ENST00000256720.2	+	13	1820	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	LPIN1_ENST00000396097.1_Missense_Mutation_p.G306D|LPIN1_ENST00000396099.1_Missense_Mutation_p.G618D|LPIN1_ENST00000425416.2_Missense_Mutation_p.G582D|LPIN1_ENST00000449576.2_Missense_Mutation_p.G661D|LPIN1_ENST00000404113.2_Missense_Mutation_p.G77D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1			45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				TGCTTGGCTGGCAAGGCCCAT	0.557000																								0							SO:0001583	missense			ENST00000256720.2	0	1	hg19	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	9.785	1.176287	0.21704	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.80738	-1.41;-1.4;-1.38;-1.38;-1.24;-0.39;0.52	4.62	3.72	0.42706	.	0.160285	0.56097	D	0.000028	T	0.77164	0.4090	M	0.65975	2.015	0.38288	D	0.942626	B;B;B	0.14805	0.0;0.011;0.008	B;B;B	0.15870	0.002;0.014;0.007	T	0.73297	-0.4027	10	0.30854	T	0.27	-16.8688	12.3844	0.55325	0.0:0.1712:0.8288:0.0	.	77;661;576	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	D	661;618;582;576;306;77;103	ENSP00000397908:G661D;ENSP00000379406:G618D;ENSP00000401522:G582D;ENSP00000256720:G576D;ENSP00000379404:G306D;ENSP00000386120:G77D;ENSP00000413714:G103D	ENSP00000256720:G576D	G	+	2	0	LPIN1	11853013	0.713000	0.27926	0.024000	0.17045	0.016000	0.09150	2.551000	0.45820	0.923000	0.37045	0.655000	0.94253	GGC		TCGA-FB-AAQ6-01A-11D-A40W-08	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	0	0	0	5	365	0	137	0	7.781872e-03	0	8	0	137	2								1	0.935692	5	360	0	137	2								-2.649287	1	1	0	0		1	0	1	1	2.074801	0	0.630000	1.870000	0.628831	0.040000	0	0.100000	0.040000	0.050834	0.040000	0	0.020000	0.070000
OSBPL6	114880	broad.mit.edu	37	2	179253838	179253838	+	Silent	SNP	T	T	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:179253838T>C	ENST00000190611.4	+	21	2635	c.2259T>C	c.(2257-2259)aaT>aaC	p.N753N	OSBPL6_ENST00000315022.2_Silent_p.N757N|OSBPL6_ENST00000409631.1_Silent_p.N717N|OSBPL6_ENST00000392505.2_Silent_p.N778N|OSBPL6_ENST00000409045.3_Silent_p.N722N|OSBPL6_ENST00000359685.3_Silent_p.N717N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6			46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		CCATCAGAAATACCAAAAGCA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000190611.4	0	1	hg19	CCDS2277.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	0	0	0	73	157	0	62	0	0	0	1	0	62	2								1	1.000000	73	157	0	61	2								-20.000000	1	1	121412	1	17	1	0	0	0	2.048692	0	0.630000	1.870000	0.625279	0.980000	8.000000e-01	1.000000	1.000000	0.960366	0.980000	1	0.890000	1.000000
BARD1	580	broad.mit.edu	37	2	215645418	215645418	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:215645418T>C	ENST00000260947.4	-	4	1314	c.1180A>G	c.(1180-1182)Aca>Gca	p.T394A	BARD1_ENST00000471787.1_5'Flank|BARD1_ENST00000449967.2_Missense_Mutation_p.T250A	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1			35		Renal(323;0.0243)			GAAGGTGGTGTACCTGGTGAA	0.418000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome															0							SO:0001583	missense	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	ENST00000260947.4	0	1	hg19	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172231	0.38315	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.74421	-0.84;-0.23	5.24	4.05	0.47172	.	0.507037	0.19811	N	0.105540	T	0.70806	0.3266	M	0.71581	2.175	0.26675	N	0.971643	B;B	0.30406	0.278;0.172	B;B	0.24974	0.057;0.039	T	0.64415	-0.6413	10	0.56958	D	0.05	-0.3721	11.0331	0.47785	0.0:0.0:0.2982:0.7018	.	250;394	E7EUI3;Q99728	.;BARD1_HUMAN	A	394;250	ENSP00000260947:T394A;ENSP00000406752:T250A	ENSP00000260947:T394A	T	-	1	0	BARD1	215353663	0.001000	0.12720	0.030000	0.17652	0.101000	0.19017	0.916000	0.28651	0.796000	0.33947	0.379000	0.24179	ACA		TCGA-FB-AAQ6-01A-11D-A40W-08	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	0	0	0	47	295	0	125	1	1.981800e-02	2	0	0	125	2								1	1.000000	47	293	0	125	2								-20.000000	1	1	0	0		1	0	0	0	2.048692	0	0.630000	1.870000	0.625279	0.420000	3.200000e-01	0.550000	0.430000	0.436622	0.420000	0	0.370000	0.490000
ALPP	250	broad.mit.edu	37	2	233244230	233244230	+	Missense_Mutation	SNP	A	A	G	rs1130341		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:233244230A>G	ENST00000392027.2	+	4	586	c.317A>G	c.(316-318)aAt>aGt	p.N106S	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental			22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)			CAGACATACAATGTAGACAAA	0.577000																								0							SO:0001583	missense			ENST00000392027.2	0	1	hg19	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	2.668	-0.278125	0.05679	2.27E-4	0.0	ENSG00000163283	ENST00000392027	D	0.95103	-3.61	2.31	-0.39	0.12450	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.295720	0.40818	N	0.001001	D	0.83487	0.5265	N	0.12831	0.26	0.29049	N	0.884612	B	0.30889	0.299	B	0.25405	0.06	T	0.75230	-0.3391	10	0.30854	T	0.27	.	6.227	0.20714	0.7126:0.1707:0.1167:0.0	rs1130341;rs3189051;rs17412756	106	P05187	PPB1_HUMAN	S	106	ENSP00000375881:N106S	ENSP00000375881:N106S	N	+	2	0	ALPP	232952474	0.992000	0.36948	0.984000	0.44739	0.510000	0.34073	0.843000	0.27640	-0.220000	0.09988	-0.817000	0.03123	AAT		TCGA-FB-AAQ6-01A-11D-A40W-08	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	0	0	0	8	116	0	42	0	1.590621e-02	0	3	0	42	2								1	0.988713	6	114	0	42	2								-12.536750	1	0	121408	6	30	1	0	0	0	2.048692	0	0.630000	1.870000	0.625279	0.210000	9.000000e-02	0.370000	0.200000	0.222827	0.210000	0	0.140000	0.290000
ALPP	250	broad.mit.edu	37	2	233244240	233244240	+	Silent	SNP	A	A	G	rs1130342	byFrequency	TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:233244240A>G	ENST00000392027.2	+	4	596	c.327A>G	c.(325-327)aaA>aaG	p.K109K	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental			22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)			ATGTAGACAAACATGTGCCAG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000392027.2	0	1	hg19	CCDS2490.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	0	0	0	9	118	0	46	0	6.559332e-03	0	2	0	46	2								1	0.993930	7	116	0	46	2								-13.892200	1	0	121408	7	34	1	0	0	0	2.048692	0	0.630000	1.870000	0.625279	0.220000	1.100000e-01	0.390000	0.220000	0.241855	0.220000	0	0.160000	0.310000
ELMOD3	84173	broad.mit.edu	37	2	85617280	85617280	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr2:85617280A>C	ENST00000409890.2	+	13	1502	c.835A>C	c.(835-837)Aag>Cag	p.K279Q	ELMOD3_ENST00000393852.4_Missense_Mutation_p.K279Q|ELMOD3_ENST00000315658.7_Missense_Mutation_p.K279Q|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Missense_Mutation_p.K279Q|ELMOD3_ENST00000409013.3_Missense_Mutation_p.K279Q			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3			12					TCGGCAGCAGAAGGTCATCCC	0.567000																								0							SO:0001583	missense			ENST00000409890.2	0	1	hg19	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	A	7.253	0.603569	0.14002	.	.	ENSG00000115459	ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000315658	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.98	2.38	0.29361	Engulfment/cell motility, ELMO (2);	0.194639	0.44483	D	0.000460	T	0.08758	0.0217	N	0.01081	-1.03	0.80722	D	1	B;B	0.23937	0.094;0.01	B;B	0.19946	0.027;0.006	T	0.16867	-1.0388	10	0.09084	T	0.74	-18.2695	10.0611	0.42275	0.51:0.49:0.0:0.0	.	279;279	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	Q	279	ENSP00000387139:K279Q;ENSP00000386304:K279Q;ENSP00000386248:K279Q;ENSP00000377434:K279Q;ENSP00000318264:K279Q	ENSP00000318264:K279Q	K	+	1	0	ELMOD3	85470791	1.000000	0.71417	0.946000	0.38457	0.990000	0.78478	2.853000	0.48317	0.730000	0.32425	0.460000	0.39030	AAG		TCGA-FB-AAQ6-01A-11D-A40W-08	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	0	0	0	9	327	0	113	0	4.280553e-02	0	11	0	113	2								0	0.311566	9	321	1	109	12								-9.480012	1	1	0	0		1	0	1	1	2.074801	0	0.630000	1.870000	0.628831	0.080000	3.000000e-02	0.150000	0.080000	0.093464	0.080000	0	0.050000	0.120000
DNAJC13	23317	broad.mit.edu	37	3	132207849	132207849	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:132207849C>G	ENST00000260818.6	+	31	3700	c.3452C>G	c.(3451-3453)gCt>gGt	p.A1151G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13			34					ACCAAACAGGCTTTCAAGTCA	0.333000																								0							SO:0001583	missense			ENST00000260818.6	0	1	hg19	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718859	0.68844	.	.	ENSG00000138246	ENST00000260818	T	0.21031	2.03	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.69463	2.115	0.80722	D	1	D	0.58268	0.982	P	0.46144	0.505	T	0.02567	-1.1140	10	0.34782	T	0.22	.	19.5228	0.95192	0.0:1.0:0.0:0.0	.	1151	O75165	DJC13_HUMAN	G	1151	ENSP00000260818:A1151G	ENSP00000260818:A1151G	A	+	2	0	DNAJC13	133690539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.950000	0.63603	2.770000	0.95276	0.650000	0.86243	GCT		TCGA-FB-AAQ6-01A-11D-A40W-08	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	0	0	0	72	186	0	117	1	6.254414e-01	4	3	0	117	2								1	1.000000	72	184	0	116	2								-20.000000	1	1	121406	1	26	1	0	0	0	2.072118	0	0.630000	1.870000	0.627654	0.870000	7.100000e-01	1.000000	1.000000	0.879516	0.870000	1	0.790000	0.970000
TGFBR2	7048	broad.mit.edu	37	3	30732996	30732996	+	Missense_Mutation	SNP	C	C	T	rs104893809		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:30732996C>T	ENST00000295754.5	+	7	1991	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	p.R537C(1)		53					TGTGGCAGAACGCTTCAGTGA	0.577000																								1	Substitution - Missense(1)	GRCh37	CM042122|CM064325	TGFBR2	M	rs104893809	SO:0001583	missense			ENST00000295754.5	0	1	hg19	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869682	0.91587	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93604	-3.25;-3.25	5.91	5.91	0.95273	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.87038	2.855	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97216	0.9874	9	0.87932	D	0	.	15.0515	0.71877	0.142:0.858:0.0:0.0	rs28934869	537;562	P37173;D2JYI1	TGFR2_HUMAN;.	C	537;562;367	ENSP00000295754:R537C;ENSP00000351905:R562C	ENSP00000295754:R537C	R	+	1	0	TGFBR2	30708000	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.930000	0.70104	2.803000	0.96430	0.650000	0.86243	CGC		TCGA-FB-AAQ6-01A-11D-A40W-08	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	0	0	0	120	132	0	115	1	1	25	20	0	115	2								1	1.000000	118	127	0	115	2								-20.000000	1	1	0	0		1	0	1	1	1.443903	1	0.630000	1.870000	0.459854	0.960000	8.600000e-01	1.000000	0.990000	0.959017	0.960000	1	0.910000	0.990000
PLXNB1	5364	broad.mit.edu	37	3	48462686	48462686	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr3:48462686C>T	ENST00000358536.4	-	8	2030	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.M587I|PLXNB1_ENST00000358459.4_Missense_Mutation_p.M587I|PLXNB1_ENST00000296440.6_Missense_Mutation_p.M587I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1			47					GGGAGGGGCACATCACACCAG	0.642000																								0							SO:0001583	missense			ENST00000358536.4	0	1	hg19	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	6.217	0.408216	0.11754	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	5.02	5.02	0.67125	.	0.169599	0.52532	D	0.000070	T	0.02533	0.0077	N	0.13352	0.335	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.001;0.004	T	0.58239	-0.7671	10	0.21014	T	0.42	.	16.9108	0.86139	0.0:1.0:0.0:0.0	.	587;587	O43157;O43157-2	PLXB1_HUMAN;.	I	587	ENSP00000296440:M587I;ENSP00000351242:M587I;ENSP00000351338:M587I;ENSP00000414199:M587I	ENSP00000296440:M587I	M	-	3	0	PLXNB1	48437690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.851000	0.39338	2.350000	0.79820	0.561000	0.74099	ATG		TCGA-FB-AAQ6-01A-11D-A40W-08	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	0	0	0	151	179	0	95	1	9.994035e-01	15	2	0	95	2								1	1.000000	149	176	0	91	2								-20.000000	1	1	0	0		1	0	1	1	1.443903	1	0.630000	1.870000	0.459854	0.950000	8.500000e-01	1.000000	0.990000	0.952241	0.950000	1	0.900000	0.990000
PDLIM3	27295	broad.mit.edu	37	4	186423581	186423581	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr4:186423581G>A	ENST00000284770.5	-	8	1035	c.962C>T	c.(961-963)gCc>gTc	p.A321V	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.A273V	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3			17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)			GTTGCAGTCGGCACACACGAA	0.557000																								0							SO:0001583	missense			ENST00000284770.5	0	1	hg19	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047505	0.75846	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	D;D	0.88277	-2.36;-2.36	5.5	5.5	0.81552	Zinc finger, LIM-type (5);	0.104803	0.64402	D	0.000002	D	0.87293	0.6141	L	0.28649	0.875	0.80722	D	1	B;B	0.32302	0.363;0.24	B;B	0.39935	0.209;0.314	D	0.86544	0.1830	10	0.72032	D	0.01	-24.6852	19.757	0.96298	0.0:0.0:1.0:0.0	.	273;321	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	V	321;273	ENSP00000284770:A321V;ENSP00000284771:A273V	ENSP00000284770:A321V	A	-	2	0	PDLIM3	186660575	1.000000	0.71417	0.748000	0.31131	0.843000	0.47879	7.823000	0.86660	2.758000	0.94735	0.561000	0.74099	GCC		TCGA-FB-AAQ6-01A-11D-A40W-08	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	0	0	0	7	578	0	189	0	6.672765e-02	0	30	0	189	2								1	0.979855	6	572	0	187	2								-2.108969	0	1	0	0		1	1	2	3	2.098859	0	0.630000	1.870000	0.631162	0.030000	0	0.080000	0.040000	0.043347	0.030000	0	0.020000	0.060000
PCDHGB7	56099	broad.mit.edu	37	5	140799542	140799542	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:140799542G>A	ENST00000398594.2	+	1	2116	c.2116G>A	c.(2116-2118)Gcg>Acg	p.A706T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7			56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTTTCTCCTCGCGGTGATTCT	0.557000																								0							SO:0001583	missense			ENST00000398594.2	0	1	hg19	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.656858	0.00779	0.0	2.35E-4	ENSG00000254122	ENST00000398594	T	0.14640	2.49	5.77	1.43	0.22495	.	0.277852	0.18696	U	0.133734	T	0.07279	0.0184	L	0.31578	0.945	0.09310	N	1	B;B	0.28470	0.213;0.141	B;B	0.25884	0.021;0.064	T	0.37430	-0.9706	10	0.13853	T	0.58	.	4.5122	0.11917	0.3841:0.0:0.4673:0.1486	.	706;706	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	T	706	ENSP00000381594:A706T	ENSP00000381594:A706T	A	+	1	0	PCDHGB7	140779726	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	1.191000	0.32138	0.352000	0.24053	0.561000	0.74099	GCG		TCGA-FB-AAQ6-01A-11D-A40W-08	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	0	0	0	114	214	0	152	0	0	0	1	0	152	2								1	1.000000	112	212	0	151	2								-20.000000	1	1	121178	6	42	1	1	2	3	2.093621	0	0.630000	1.870000	0.631162	0.990000	9.400000e-01	1.000000	1.000000	0.996336	0.990000	1	0.990000	1.000000
FAT2	2196	broad.mit.edu	37	5	150891812	150891812	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:150891812G>A	ENST00000261800.5	-	20	11831	c.11819C>T	c.(11818-11820)gCc>gTc	p.A3940V	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTGGGTGAGGGCTTGTGTCTC	0.607000																								0							SO:0001583	missense			ENST00000261800.5	0	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	2.261	-0.369196	0.05069	.	.	ENSG00000086570	ENST00000261800	T	0.69561	-0.41	5.16	3.33	0.38152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.459686	0.18025	N	0.154102	T	0.59293	0.2183	L	0.51422	1.61	0.09310	N	1	B;B	0.32245	0.361;0.136	B;B	0.35470	0.203;0.042	T	0.47484	-0.9114	10	0.29301	T	0.29	.	9.7829	0.40660	0.0:0.3639:0.503:0.1331	.	3940;1045	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	V	3940	ENSP00000261800:A3940V	ENSP00000261800:A3940V	A	-	2	0	FAT2	150872005	0.971000	0.33674	0.132000	0.22025	0.017000	0.09413	1.409000	0.34680	0.638000	0.30545	-0.121000	0.15023	GCC		TCGA-FB-AAQ6-01A-11D-A40W-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	0	0	47	158	0	62		0	0	0	0	62	2								1	1.000000	47	157	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.093621	0	0.630000	1.870000	0.631162	0.720000	5.500000e-01	0.930000	0.720000	0.736237	0.720000	0	0.630000	0.830000
GRM6	2916	broad.mit.edu	37	5	178413297	178413297	+	Missense_Mutation	SNP	C	C	T	rs62638622		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:178413297C>T	ENST00000517717.1	-	9	1996	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.R653H			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6			55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		GAAGAGCCTGCGGGCGGCACA	0.642000																								0							SO:0001583	missense			ENST00000517717.1	0	1	hg19	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471230	0.63625	0.0	2.33E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90676	-2.71;-2.71	5.02	5.02	0.67125	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.96087	0.8725	M	0.90425	3.115	0.58432	D	0.999997	D;D	0.89917	1.0;0.979	D;P	0.87578	0.998;0.581	D	0.96814	0.9599	9	0.87932	D	0	.	16.2011	0.82078	0.0:1.0:0.0:0.0	rs62638622	809;653	E7EX65;O15303	.;GRM6_HUMAN	H	809;653;653	ENSP00000231188:R653H;ENSP00000430767:R653H	ENSP00000231188:R653H	R	-	2	0	GRM6	178345903	1.000000	0.71417	0.091000	0.20842	0.116000	0.19942	7.658000	0.83755	2.495000	0.84180	0.462000	0.41574	CGC		TCGA-FB-AAQ6-01A-11D-A40W-08	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2	0	0	0	4	99	0	27		0	0	0	0	27	2								1	0.882257	4	95	0	26	2								-6.898672	1	1	121358	30	43	1	1	2	3	2.093621	0	0.630000	1.870000	0.631162	0.130000	4.000000e-02	0.300000	0.120000	0.150794	0.130000	0	0.080000	0.210000
C5orf42	65250	broad.mit.edu	37	5	37125474	37125474	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr5:37125474C>G	ENST00000508244.1	-	45	8761	c.8668G>C	c.(8668-8670)Gac>Cac	p.D2890H	C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000274258.7_Missense_Mutation_p.D1788H|C5orf42_ENST00000425232.2_Missense_Mutation_p.D2890H			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42			79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		CTTTCCTTGTCAGTTCTTTGT	0.348000																								0							SO:0001583	missense			ENST00000508244.1	0	1	hg19	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633422	0.87660	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.97	5.97	0.96955	.	0.392756	0.27792	N	0.017821	T	0.43055	0.1230	L	0.29908	0.895	0.31060	N	0.714288	P;P	0.46220	0.547;0.874	B;B	0.44224	0.444;0.444	T	0.52859	-0.8519	10	0.66056	D	0.02	.	15.924	0.79597	0.0:1.0:0.0:0.0	.	2890;1788	E9PH94;Q9H799	.;CE042_HUMAN	H	2890;2890;1788;1956	ENSP00000421690:D2890H;ENSP00000389014:D2890H;ENSP00000274258:D1788H;ENSP00000424223:D1956H	ENSP00000274258:D1788H	D	-	1	0	C5orf42	37161231	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.754000	0.55189	2.828000	0.97474	0.655000	0.94253	GAC		TCGA-FB-AAQ6-01A-11D-A40W-08	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	0	0	0	13	412	0	157	0	1.061092e-02	0	5	0	157	2								1	0.999504	12	408	0	157	2								-3.316190	1	1	121412	4	42	1	0	0	0	2.091204	0	0.630000	1.870000	0.630000	0.090000	4.000000e-02	0.160000	0.100000	0.103924	0.090000	0	0.070000	0.130000
NOL7	51406	broad.mit.edu	37	6	13620462	13620462	+	Missense_Mutation	SNP	G	G	A	rs143778341		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:13620462G>A	ENST00000451315.2	+	6	555	c.523G>A	c.(523-525)Gta>Ata	p.V175I	NOL7_ENST00000474485.1_3'UTR|RANBP9_ENST00000469916.1_5'Flank|AL441883.1_ENST00000600057.1_Missense_Mutation_p.T105M	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa			5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)		CTACTTGGCCGTAAGGCTAAA	0.383000																								0							SO:0001583	missense			ENST00000451315.2	0	1	hg19	CCDS4528.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249688	0.22880	2.27E-4	0.0	ENSG00000225921	ENST00000451315	.	.	.	5.8	-11.6	0.00059	.	1.503030	0.04455	N	0.373256	T	0.16214	0.0390	N	0.24115	0.695	0.09310	N	1	B	0.32128	0.357	B	0.24394	0.053	T	0.20107	-1.0285	9	0.52906	T	0.07	-6.5213	23.1364	0.99980	0.0:0.6737:0.2507:0.0756	.	175	Q9UMY1	NOL7_HUMAN	I	175	.	ENSP00000405674:V175I	V	+	1	0	NOL7	13728441	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-1.036000	0.03560	-1.984000	0.00985	-0.211000	0.12701	GTA		TCGA-FB-AAQ6-01A-11D-A40W-08	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1	0	0	0	5	309	0	135	0	7.067690e-01	0	146	0	135	2								1	0.935905	5	305	0	135	2								-2.688085	1	1	0	0		1	0	1	1	2.077905	0	0.630000	1.870000	0.628831	0.050000	1.000000e-02	0.110000	0.050000	0.059935	0.050000	0	0.030000	0.080000
PACRG	135138	broad.mit.edu	37	6	163510311	163510311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:163510311C>T	ENST00000337019.3	+	5	708	c.484C>T	c.(484-486)Cga>Tga	p.R162*	PACRG_ENST00000366888.2_Nonsense_Mutation_p.R162*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.R162*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	p.R162*(1)		20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)			CCTCCGAAACCGACAGGTCAT	0.453000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000337019.3	0	1	hg19	CCDS5284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.811865|4.811865	0.90707|0.90707	0.0|0.0	1.16E-4|1.16E-4	ENSG00000112530|ENSG00000112530	ENST00000534958|ENST00000337019;ENST00000366889;ENST00000366888	.|.	.|.	.|.	5.63|5.63	3.76|3.76	0.43208|0.43208	.|.	.|0.126644	.|0.53938	.|D	.|0.000055	T|.	0.23688|.	0.0573|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.08953|.	-1.0697|.	3|.	.|0.08381	.|T	.|0.77	-12.2326|-12.2326	14.4441|14.4441	0.67338|0.67338	0.2765:0.7235:0.0:0.0|0.2765:0.7235:0.0:0.0	.|.	.|.	.|.	.|.	L|X	77|162	.|.	.|ENSP00000337946:R162X	P|R	+|+	2|1	0|2	PACRG|PACRG	163430301|163430301	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.928000|0.928000	0.56348|0.56348	1.974000|1.974000	0.40559|0.40559	0.656000|0.656000	0.30886|0.30886	0.591000|0.591000	0.81541|0.81541	CCG|CGA		TCGA-FB-AAQ6-01A-11D-A40W-08	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	0	0	0	128	165	0	177	0	0	0	1	0	177	2								1	1.000000	127	164	0	176	2								-19.998010	1	1	121412	3	40	1	0	1	1	1.467522	1	0.630000	1.870000	0.459854	0.920000	8.100000e-01	1.000000	0.950000	0.926608	0.920000	1	0.870000	0.980000
NKAPL	222698	broad.mit.edu	37	6	28227596	28227596	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:28227596C>T	ENST00000343684.3	+	1	499	c.447C>T	c.(445-447)gaC>gaT	p.D149D	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like			31					TAGATTCTGACGAACATACCC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000343684.3	0	1	hg19	CCDS34353.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1	0	0	0	182	487	0	205		0	0	0	0	205	2								1	1.000000	180	483	0	202	2								-20.000000	1	1	0	0		1	0	1	1	2.077905	0	0.630000	1.870000	0.628831	0.850000	7.500000e-01	0.960000	0.860000	0.862176	0.850000	1	0.800000	0.920000
PHF3	23469	broad.mit.edu	37	6	64412409	64412409	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64412409G>T	ENST00000262043.3	+	10	3451	c.3111G>T	c.(3109-3111)atG>atT	p.M1037I	PHF3_ENST00000393387.1_Missense_Mutation_p.M1037I			Q92576	PHF3_HUMAN	PHD finger protein 3			75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		CCATAGAAATGATTGAGAAAG	0.308000													GBM(135;136 1820 29512 34071 46235)											0							SO:0001583	missense			ENST00000262043.3	0	1	hg19	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971366	0.74246	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.46819	2.09;0.86;2.13;2.13	5.49	5.49	0.81192	Transcription elongation factor S-II, central domain (2);	0.000000	0.48286	D	0.000195	T	0.41696	0.1170	L	0.39147	1.195	0.80722	D	1	P	0.52842	0.956	P	0.48982	0.597	T	0.33189	-0.9878	10	0.52906	T	0.07	-16.5771	19.3501	0.94379	0.0:0.0:1.0:0.0	.	1037	Q92576	PHF3_HUMAN	I	851;306;1037;1037	ENSP00000424694:M851I;ENSP00000425338:M306I;ENSP00000262043:M1037I;ENSP00000377048:M1037I	ENSP00000262043:M1037I	M	+	3	0	PHF3	64470368	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.773000	0.98989	2.576000	0.86940	0.591000	0.81541	ATG		TCGA-FB-AAQ6-01A-11D-A40W-08	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0	0	0	38	209	0	59	0	8.844976e-01	0	23	0	59	2								1	1.000000	38	207	0	59	2								-20.000000	1	1	0	0		1	0	1	1	2.077905	0	0.630000	1.870000	0.628831	0.480000	3.500000e-01	0.630000	0.480000	0.494481	0.480000	0	0.410000	0.560000
PHF3	23469	broad.mit.edu	37	6	64413463	64413463	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413463G>A	ENST00000262043.3	+	11	3609	c.3269G>A	c.(3268-3270)gGa>gAa	p.G1090E	PHF3_ENST00000393387.1_Missense_Mutation_p.G1090E			Q92576	PHF3_HUMAN	PHD finger protein 3			75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		AAGCCAGAAGGATCTGAAAAA	0.368000													GBM(135;136 1820 29512 34071 46235)											0							SO:0001583	missense			ENST00000262043.3	0	1	hg19	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681306	0.29872	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.41758	2.35;0.99;2.37;2.37	5.54	1.03	0.20045	.	0.238263	0.21734	N	0.069931	T	0.02727	0.0082	N	0.02539	-0.55	0.25439	N	0.988114	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.02654	T	1	-7.4536	0.8723	0.01217	0.2381:0.1955:0.3717:0.1947	.	1090	Q92576	PHF3_HUMAN	E	904;359;1090;1090	ENSP00000424694:G904E;ENSP00000425338:G359E;ENSP00000262043:G1090E;ENSP00000377048:G1090E	ENSP00000262043:G1090E	G	+	2	0	PHF3	64471422	0.998000	0.40836	0.995000	0.50966	0.968000	0.65278	2.108000	0.41854	0.222000	0.20900	0.591000	0.81541	GGA		TCGA-FB-AAQ6-01A-11D-A40W-08	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0	0	0	35	263	0	124	0	3.411968e-01	0	10	0	124	2								1	1.000000	35	261	0	124	2								-14.817710	1	0	121412	2	29	1	0	1	1	2.077905	0	0.630000	1.870000	0.628831	0.370000	2.600000e-01	0.490000	0.370000	0.379003	0.370000	0	0.310000	0.440000
PHF3	23469	broad.mit.edu	37	6	64413504	64413504	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:64413504G>C	ENST00000262043.3	+	11	3650	c.3310G>C	c.(3310-3312)Gat>Cat	p.D1104H	PHF3_ENST00000393387.1_Missense_Mutation_p.D1104H			Q92576	PHF3_HUMAN	PHD finger protein 3			75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		TATGTCTAAAGATACCACTAG	0.363000													GBM(135;136 1820 29512 34071 46235)											0							SO:0001583	missense			ENST00000262043.3	0	1	hg19	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133046	0.56828	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.59906	1.23;0.23;1.63;1.63	5.78	5.78	0.91487	.	0.000000	0.37348	N	0.002136	T	0.71247	0.3317	M	0.82193	2.58	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.75249	-0.3384	10	0.66056	D	0.02	-23.8579	12.4924	0.55907	0.0767:0.0:0.9233:0.0	.	1104	Q92576	PHF3_HUMAN	H	918;373;1104;1104	ENSP00000424694:D918H;ENSP00000425338:D373H;ENSP00000262043:D1104H;ENSP00000377048:D1104H	ENSP00000262043:D1104H	D	+	1	0	PHF3	64471463	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.246000	0.78247	2.716000	0.92895	0.591000	0.81541	GAT		TCGA-FB-AAQ6-01A-11D-A40W-08	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0	0	0	31	333	0	148	0	3.161037e-01	0	13	0	148	2								1	1.000000	31	331	0	148	2								-20.000000	1	0	0	0		1	0	1	1	2.077905	0	0.630000	1.870000	0.628831	0.260000	1.800000e-01	0.370000	0.270000	0.276241	0.260000	0	0.220000	0.320000
RREB1	6239	broad.mit.edu	37	6	7229470	7229470	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr6:7229470G>A	ENST00000349384.6	+	10	1452	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T	RREB1_ENST00000379938.2_Missense_Mutation_p.A380T|RREB1_ENST00000334984.6_Missense_Mutation_p.A380T|RREB1_ENST00000379933.3_Missense_Mutation_p.A380T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			GCCTGCCCCCGCCGAGGAGCC	0.652000																								0							SO:0001583	missense			ENST00000349384.6	0	1	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	2.187	-0.386212	0.04966	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.09723	3.07;3.05;3.07;2.95;3.1	5.71	-3.44	0.04796	.	0.637364	0.13362	N	0.393588	T	0.01905	0.0060	N	0.20685	0.6	0.09310	N	1	B;B;B	0.15473	0.009;0.013;0.002	B;B;B	0.09377	0.004;0.004;0.002	T	0.45687	-0.9244	10	0.56958	D	0.05	-3.7986	8.2984	0.31999	0.433:0.2:0.3669:0.0	.	380;380;380	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	T	380	ENSP00000369265:A380T;ENSP00000369270:A380T;ENSP00000305560:A380T;ENSP00000335574:A380T;ENSP00000419511:A380T	ENSP00000335574:A380T	A	+	1	0	RREB1	7174469	0.000000	0.05858	0.000000	0.03702	0.790000	0.44656	-0.498000	0.06420	-0.332000	0.08489	-0.672000	0.03802	GCC		TCGA-FB-AAQ6-01A-11D-A40W-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0	0	0	35	151	0	50	0	9.746707e-02	0	3	0	50	2								1	1.000000	35	145	0	49	2								-20.000000	1	1	121412	3	35	1	0	1	1	2.077905	0	0.630000	1.870000	0.628831	0.590000	4.300000e-01	0.780000	0.590000	0.604073	0.590000	0	0.500000	0.690000
DGKI	9162	broad.mit.edu	37	7	137092622	137092622	+	Splice_Site	SNP	G	G	A	rs79823365		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:137092622G>A	ENST00000288490.5	-	31	2943	c.2943C>T	c.(2941-2943)caC>caT	p.H981H	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Splice_Site_p.H994H|DGKI_ENST00000446122.1_Splice_Site_p.H963H|DGKI_ENST00000453654.2_Splice_Site_p.H650H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota			84					CCTACTTACCGTGGTCAAGGA	0.443000																								0							SO:0001630	splice_region_variant			ENST00000288490.5	0	1	hg19	CCDS5845.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	0	0	0	142	366	0	203		0	0	0	0	203	2								1	1.000000	141	364	0	202	2								-20.000000	1	1	121412	1	31	1	0	0	0	2.086534	0	0.630000	1.870000	0.630000	0.880000	7.600000e-01	1.000000	0.880000	0.887939	0.880000	1	0.820000	0.950000
TAS2R4	50832	broad.mit.edu	37	7	141478409	141478409	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:141478409A>G	ENST00000247881.2	+	1	168	c.121A>G	c.(121-123)Atc>Gtc	p.I41V	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4			7	Melanoma(164;0.0171)				AAGCCATAGAATCTCCTCTTC	0.383000																								0							SO:0001583	missense			ENST00000247881.2	0	1	hg19	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	A	8.257	0.810241	0.16537	.	.	ENSG00000127364	ENST00000247881	T	0.00873	5.59	5.57	2.23	0.28157	.	0.805187	0.11220	N	0.586826	T	0.01189	0.0039	L	0.49126	1.545	0.09310	N	1	B	0.19200	0.034	B	0.17098	0.017	T	0.46992	-0.9151	10	0.30078	T	0.28	.	5.7936	0.18373	0.3662:0.4428:0.191:0.0	.	41	Q9NYW5	TA2R4_HUMAN	V	41	ENSP00000247881:I41V	ENSP00000247881:I41V	I	+	1	0	TAS2R4	141124878	0.000000	0.05858	0.136000	0.22124	0.939000	0.58152	-0.260000	0.08708	0.214000	0.20742	0.528000	0.53228	ATC		TCGA-FB-AAQ6-01A-11D-A40W-08	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1	0	0	0	156	422	0	227		0	0	0	0	227	2								1	1.000000	152	412	0	226	2								-20.000000	1	1	0	0		1	1	2	3	2.102894	0	0.630000	1.870000	0.631162	0.850000	7.400000e-01	0.980000	0.860000	0.860932	0.850000	1	0.790000	0.920000
STAG3L4	64940	broad.mit.edu	37	7	66785098	66785098	+	RNA	SNP	A	A	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr7:66785098A>C	ENST00000416602.2	+	0	728					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)			7		Lung NSC(55;0.0839)|all_lung(88;0.181)			AGCTGCATTAATACTACATTG	0.368000																								0											ENST00000416602.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	a	4.956	0.177539	0.09443	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	2.19	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3172	0.21196	1.0:0.0:0.0:0.0	.	.	.	.	Y	151	.	.	X	+	3	2	STAG3L4	66422533	1.000000	0.71417	0.992000	0.48379	0.373000	0.29922	1.725000	0.38074	1.031000	0.39867	0.076000	0.15429	TAA		TCGA-FB-AAQ6-01A-11D-A40W-08	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	0	0	0	41	234	0	111	0	7.138993e-01	1	15	0	111	2								1	1.000000	40	230	0	116	2								-20.000000	1	1	0	0		1	1	2	3	2.108476	0	0.630000	1.870000	0.631162	0.470000	3.400000e-01	0.620000	0.470000	0.481842	0.470000	0	0.400000	0.550000
ENPP2	5168	broad.mit.edu	37	8	120633644	120633644	+	Silent	SNP	C	C	T			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:120633644C>T	ENST00000075322.6	-	4	466	c.408G>A	c.(406-408)gtG>gtA	p.V136V	ENPP2_ENST00000522826.1_Silent_p.V136V|ENPP2_ENST00000427067.2_Silent_p.V132V|ENPP2_ENST00000259486.6_Silent_p.V136V	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2			69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)		CTTTGCAAACCACTTGGTAAT	0.463000													Melanoma(20;305 879 2501 4818 31020)											0							SO:0001819	synonymous_variant			ENST00000075322.6	0	1	hg19	CCDS34936.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1	0	0	0	86	203	0	101	0	9.999485e-01	0	38	0	101	2								1	1.000000	84	200	0	99	2								-7.495295	1	1	0	0		1	0	0	0	2.050546	0	0.630000	1.870000	0.625279	0.920000	7.600000e-01	1.000000	1.000000	0.924234	0.920000	1	0.840000	1.000000
FAM135B	51059	broad.mit.edu	37	8	139268947	139268947	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:139268947G>A	ENST00000395297.1	-	5	523	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B			238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)		TTCACTGTCCGTAAAGTGCAG	0.458000										HNSCC(54;0.14)														0							SO:0001583	missense			ENST00000395297.1	0	1	hg19	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569217	0.86439	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15834	2.39	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31613	-0.9937	10	0.46703	T	0.11	-10.4338	18.4074	0.90541	0.0:0.0:1.0:0.0	.	118	Q49AJ0	F135B_HUMAN	M	118	ENSP00000378710:T118M	ENSP00000160713:T118M	T	-	2	0	FAM135B	139338129	1.000000	0.71417	0.580000	0.28601	0.904000	0.53231	9.597000	0.98273	2.663000	0.90544	0.655000	0.94253	ACG		TCGA-FB-AAQ6-01A-11D-A40W-08	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	0	0	0	14	194	0	51		0	0	0	0	51	2								1	0.999786	14	194	0	51	2								-3.220807	1	1	120916	1	32	1	1	2	3	2.671199	1	0.630000	1.870000	0.709588	0.280000	1.500000e-01	1.000000	0.270000	0.362512	0.280000	0	0.210000	0.410000
RAB11FIP1	80223	broad.mit.edu	37	8	37728914	37728914	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:37728914C>A	ENST00000330843.4	-	4	3418	c.3406G>T	c.(3406-3408)Gct>Tct	p.A1136S	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	p.A1136T(1)		49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		ACTCTACCAGCGGAGCCCTCT	0.542000											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												1	Substitution - Missense(1)						SO:0001583	missense			ENST00000330843.4	0	1	hg19	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911299	0.33721	.	.	ENSG00000156675	ENST00000330843	T	0.44881	0.91	5.29	0.0514	0.14297	.	0.867765	0.09895	N	0.741866	T	0.16938	0.0407	N	0.19112	0.55	0.20926	N	0.999823	P;B	0.43826	0.818;0.239	B;B	0.36378	0.223;0.054	T	0.08576	-1.0715	10	0.07030	T	0.85	-1.0042	1.2767	0.02032	0.2411:0.4183:0.1345:0.2061	.	465;1136	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	S	1136	ENSP00000331342:A1136S	ENSP00000331342:A1136S	A	-	1	0	RAB11FIP1	37848072	0.003000	0.15002	0.106000	0.21319	0.878000	0.50629	0.172000	0.16704	-0.054000	0.13266	0.555000	0.69702	GCT		TCGA-FB-AAQ6-01A-11D-A40W-08	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	0	0	0	153	447	0	211	0	7.655763e-01	0	10	0	211	2								1	1.000000	152	425	0	208	2								-3.319003	1	1	0	0		1	0	0	0	2.050546	0	0.630000	1.870000	0.625279	0.790000	6.800000e-01	0.910000	0.800000	0.801069	0.790000	0	0.730000	0.860000
RP1	6101	broad.mit.edu	37	8	55533850	55533850	+	Silent	SNP	C	C	T	rs141074157		TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:55533850C>T	ENST00000220676.1	+	2	472	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)			169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		TATGTTCCCACGGCAGGAAGG	0.682000													Colon(91;1014 1389 7634 14542 40420)											0							SO:0001819	synonymous_variant			ENST00000220676.1	0	1	hg19	CCDS6160.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	0	0	0	143	276	0	126	0	1.169709e-01	0	2	0	126	2								1	1.000000	137	268	0	124	2								-14.558440	1	1	121412	11	41	1	0	0	0	2.050546	0	0.630000	1.870000	0.625279	0.990000	9.200000e-01	1.000000	1.000000	0.993809	0.990000	1	0.990000	1.000000
CRISPLD1	83690	broad.mit.edu	37	8	75928804	75928804	+	Silent	SNP	G	G	C			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr8:75928804G>C	ENST00000262207.4	+	7	1200	c.732G>C	c.(730-732)ggG>ggC	p.G244G	CRISPLD1_ENST00000523524.1_Silent_p.G56G|CRISPLD1_ENST00000517786.1_Silent_p.G58G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1			43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		TAACAGAAGGGTCAGACAGGT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000262207.4	0	1	hg19	CCDS6219.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	0	0	0	62	422	0	146	0	2.277480e-01	0	7	0	146	2								1	1.000000	60	416	0	146	2								-20.000000	1	1	0	0		1	0	0	0	2.050546	0	0.630000	1.870000	0.625279	0.390000	3.100000e-01	0.500000	0.400000	0.405835	0.390000	0	0.350000	0.450000
JAK2	3717	broad.mit.edu	37	9	5064981	5064981	+	Silent	SNP	A	A	G			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chr9:5064981A>G	ENST00000381652.3	+	9	1649	c.1155A>G	c.(1153-1155)aaA>aaG	p.K385K	JAK2_ENST00000544510.1_Silent_p.K236K|JAK2_ENST00000539801.1_Silent_p.K385K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACCTCTGTAAAGAAGTAGCAC	0.348000		1	T, Mis, O	ETV6, PCM1, BCR	ALL, AML, MPD,  CML				Polycythemia Vera, Familial						Dom	yes		9	9p24	3717	Janus kinase 2		L	0							SO:0001819	synonymous_variant	Familial Cancer Database		ENST00000381652.3	0	1	hg19	CCDS6457.1																																																																																				TCGA-FB-AAQ6-01A-11D-A40W-08	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1	0	0	0	69	79	0	75	1	8.512072e-01	6	0	0	75	2								1	1.000000	67	77	0	75	2								-20.000000	1	1	0	0		1	0	1	1	1.418992	1	0.630000	1.870000	0.459854	0.940000	8.000000e-01	1.000000	0.990000	0.935313	0.940000	1	0.870000	0.990000
AIFM1	9131	broad.mit.edu	37	X	129265770	129265770	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ6-01A-11D-A40W-08	TCGA-FB-AAQ6-11A-11D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d1327445-448e-492d-98c6-09a511e3b54b	a05a5cde-bbd2-4c57-b5b9-b57586d42274	g.chrX:129265770C>A	ENST00000287295.3	-	14	1683	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.D133Y|AIFM1_ENST00000346424.2_Missense_Mutation_p.D198Y|AIFM1_ENST00000319908.3_Missense_Mutation_p.D481Y|AIFM1_ENST00000460436.2_Missense_Mutation_p.D146Y	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1			30				Flavin adenine dinucleotide(DB03147)	GGGCCCAAATCACTCCTAAGA	0.443000																								0							SO:0001583	missense			ENST00000287295.3	0	1	hg19	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819926	0.90873	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.85258	0.59;0.57;-1.96;0.6;-0.96	5.8	5.8	0.92144	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95449	0.8532	10	0.87932	D	0	-18.3899	19.0045	0.92844	0.0:1.0:0.0:0.0	.	198;481;485	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	Y	146;198;481;133;485	ENSP00000431222:D146Y;ENSP00000316320:D198Y;ENSP00000315122:D481Y;ENSP00000405879:D133Y;ENSP00000287295:D485Y	ENSP00000287295:D485Y	D	-	1	0	AIFM1	129093451	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.487000	0.81328	2.436000	0.82500	0.600000	0.82982	GAT		TCGA-FB-AAQ6-01A-11D-A40W-08	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2	0	0	0	186	122	0	111	1	1	52	9	0	111	2								1	1.000000	183	118	0	110	2								-20.000000	1	1	0	0		1	0	1	1			0.630000	1.870000	0.630000	0.940000	8.600000e-01	1.000000	0.960000	0.944458	0.940000	1	0.900000	0.980000
